Default: Human Mutation

ISSN: 1059-7794

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Human Mutation Q1 Unclaimed

Wiley-Liss Inc. United States
Unfortunately this journal has not been claimed yet. For this reason, some information may be unavailable.

Human Mutation is a journal indexed in SJR in Genetics and Genetics (clinical) with an H index of 162. It has a price of 3450 €. It has an SJR impact factor of 1,981 and it has a best quartile of Q1. It is published in English. It has an SJR impact factor of 1,981.

Human Mutation focuses its scope in these topics and keywords: mutations, mutation, genes, database, disease, gene, jewish, type, brca, dna, ...

Type: Journal

Type of Copyright:

Languages: English

Open Access Policy: Open Choice

Type of publications:

Publication frecuency: -


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Human Mutation


SJR Impact factor


H Index


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Total Cites (3 years)


Citable Docs (3 years)


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Aims and Scope

mutations, mutation, genes, database, disease, gene, jewish, type, brca, dna, sequencing, heritage, finnish, nf, cystic, categories, correlationsreview, candidate, associationvariable, ata, atg, atpamucolipidosis, autoinflammatory, axonal, basis, bottlenecks, brought,

Best articles by citations

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

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Proposal for an allele nomenclature system based on the evolutionary divergence of haplotypes

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Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

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Large deletions in the polycystic kidney disease 1 (PKD1) gene

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Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome

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Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome

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Detailed analysis of five mutations in dihydropyrimidine dehydrogenase detected in cancer patients with 5-fluorouracil-related side effects

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Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location

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Biallelic variants in

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Phenotype-genotype characterization of 10 families with severe a subunit factor XIII deficiency

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Mutations in the human ATP-binding cassette transportersABCG5 andABCG8 in sitosterolemia

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CYLD mutation causes multiple familial trichoepithelioma in three Chinese families

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Novel mutations and SNPs identified inCCR2 using a new comprehensive denaturing gradient gel electrophoresis assay

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BRCA1 and BRCA2 in Indian breast cancer patients

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BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic

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BRCA1 andBRCA2 sequence variants in Chinese breast cancer families

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Novel mutations in theAtlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to theSPG3A locus

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High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation

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Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption

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A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease

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Hereditary angioedema: The mutation spectrum ofSERPING1/C1NHin a large Spanish cohort

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Comprehensive screening for constitutionalRB1mutations by DHPLC and QMPSF

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Fluorescent microsphere-based readout technology for multiplexed human single nucleotide polymorphism analysis and bacterial identification

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Novel germline mutations in theBRCA1 andBRCA2 genes in Indian breast and breast-ovarian cancer families

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