Varaico: Literature-Extracted Genetic Variants

Gene:PDZD7
Variant:p.H403fs
Back to variants list

PDZD7

NM_001195263.2:p.H403fs

Associated Papers

A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss.

Fahimi H et al.

Bmc Medical Genomics, 2021

Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.

Yuan Y et al.

European Journal of Human Genetics : Ejhg, 2020

31541171 (PubMed )
Supplement: 41431_2019_510_MOESM2_ESM.xlsx › Sheet2

Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss.

Guan J et al.

American Journal of Medical Genetics. Part A, 2018

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."