Varaico: Literature-Extracted Genetic Variants

Gene:GIPC3
Variant:p.H170N
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GIPC3

NM_133261.3:p.H170N

Associated Papers

A review of the mechanisms underlying the role of the GIPC3 gene in hereditary deafness.

Li X et al.

Frontiers in Synaptic Neuroscience, 2022

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

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

Shang G et al.

Elife, 2017

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.

Bademci G et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

Challenges in whole exome sequencing: an example from hereditary deafness.

Sirmaci A et al.

Plos One, 2012

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.

Diaz-Horta O et al.

Plos One, 2012

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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."