Varaico: Literature-Extracted Genetic Variants

Gene:GIPC3
Variant:p.G94D
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GIPC3

NM_133261.3:p.G94D

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

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

Shang G et al.

Elife, 2017

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."