Varaico: Literature-Extracted Genetic Variants

Gene:GIPC3
Variant:p.*313Q
Back to variants list

GIPC3

NM_133261.3:p.*313Q

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

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested.

Basel-Salmon L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.

Tropitzsch A et al.

Ear and Hearing, 0

34753855 (PubMed )
Supplement: aud-43-1049-s003.xlsx › variant_3
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."