Human Mutation

Wiley Online Library : Human Mutation

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Functional consequences of SLC1A3 mutations associated with episodic ataxia 6

Abstract The episodic ataxias (EA) are a group of inherited neurological diseases characterized by paroxysmal cerebellar incoordination. There exist nine forms of episodic ataxia with distinct neurological symptoms and genetic origins. Episodic ataxia type 6 (EA6) differs from other EA forms in long attack duration, epilepsy and absent myokymia, nystagmus,...

Familial Mediterranean fever: Penetrance of the p.[Met694Val];[Glu148Gln] and p.[Met694Val];[=] genotypes

Abstract The penetrance of the p.[Met694Val];[Met694Val] genotype of pyrin in adult FMF patients is close to 100%. Disease penetrance of the p.[Met694Val];[Glu148Gln] genotype (M694V/E148Q), and the heterozygous p.[Met694Val];[=] genotype is unknown. A difference in the penetrance of the latter two may indicate functionality for the p.Glu148Gln variant....

Large‐scale comparative evaluation of user‐friendly tools for predicting variant‐induced alterations of splicing regulatory elements

Abstract Discriminating which nucleotide variants cause disease or contribute to phenotypic traits remains a major challenge in human genetics. In theory, any intragenic variant can potentially affect RNA splicing by altering splicing regulatory elements (SREs). However, these alterations are often ignored mainly because pioneer SRE‐predictors were...

Inside Front Cover, Volume 41, Issue 8

Inside Front Cover : The cover image is based on the Rapid Communication TRPV6 variants confer susceptibility to chronic pancreatitis in the Chinese population by Wen‐Bin Zou et al., https://doi.org/10.1002/humu.24032.

Issue Information

Outside Back Cover, Volume 41, Issue 8

Outside Back Cover : The cover image is based on the Data Article Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database by Ceren Tunca et al., https://doi.org/10.1002/humu.24055.

Response to: A commentary on “A Vietnamese human genetic variation database”

A commentary on “A Vietnamese human genetic variation database”

Outside Front Cover, Volume 41, Issue 8

Outside Front Cover : The cover image is based on the Research Article Rare mutations in the autophagy‐regulating gene AMBRA1 contribute to human neural tube defects by Jianhong Ye et al., https://doi.org/10.1002/humu.24028.

Inside Back Cover, Volume 41, Issue 8

Inside Back Cover : The cover image is based on the Research Article Clinical validity of expanded carrier screening: Evaluating the gene‐disease relationship in more than 200 conditions by Marie Balzotti et al., https://doi.org/10.1002/humu.24033.

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