Varaico: Literature-Extracted Genetic Variants

Gene:GIPC3
Variant:p.G256D
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GIPC3

NM_133261.3:p.G256D

Associated Papers

Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population.

Petrova NV et al.

Genes, 2021

Low incidence of GIPC3 variants among the prelingual hearing impaired from southern India.

Kalaimathi M et al.

Journal of Genetics, 2020

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

Structure analyses reveal a regulated oligomerization mechanism of the PlexinD1/GIPC/myosin VI complex.

Shang G et al.

Elife, 2017

Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing.

Ammar-Khodja F et al.

Molecular Genetics & Genomic Medicine, 2015

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.

Rehman AU et al.

Human Genetics, 2011

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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."