Varaico: Literature-Extracted Genetic Variants

Gene:GSDME
Variant:p.V207M
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GSDME

NM_001127453.2:p.V207M

Associated Papers

Replication of previous autism-GWAS hits suggests the association between NAA1, SORCS3, and GSDME and autism in the Han Chinese population.

Lin F et al.

Heliyon, 2024

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL20

A DFNA5 mutation identified in Japanese families with autosomal dominant hereditary hearing loss.

Nishio A et al.

Annals of Human Genetics, 2014

Molecular genetic epidemiology of age-related hearing impairment.

Uchida Y et al.

Auris, Nasus, Larynx, 2011

Single nucleotide polymorphisms in Wnt signaling and cell death pathway genes and susceptibility to colorectal cancer.

Frank B et al.

Carcinogenesis, 2010

Evidence for a founder mutation causing DFNA5 hearing loss in East Asians.

Park HJ et al.

Journal of Human Genetics, 2010

Is DFNA5 a susceptibility gene for age-related hearing impairment?

Van Laer L et al.

European Journal of Human Genetics : Ejhg, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."