Varaico: Literature-Extracted Genetic Variants

Gene:BDP1
Variant:p.G1690R
Back to variants list

BDP1

NM_018429.3:p.G1690R

Associated Papers

Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.

Florentine MM et al.

Human Genetics, 2022

34515852 (PubMed )
Supplement: 439_2021_2338_MOESM2_ESM.xlsx › All_variants

A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family.

Lachgar M et al.

Genes, 2021

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."