Varaico: Literature-Extracted Genetic Variants

Gene:TRABD
Variant:p.H10Y
Back to variants list

TRABD

NM_001320485.2:p.H10Y

Associated Papers

A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia.

Heinonen T et al.

Human Genetics, 2023

37222814 (PubMed )
Supplement: 439_2023_2571_MOESM4_ESM.xlsx › Sheet1
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."