Varaico: Literature-Extracted Genetic Variants

Gene:GLRA1
Variant:p.R57_F60del0
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GLRA1

NM_000171.4:p.R57_F60del0

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_MOESM5_ESM.xlsx › Sheet1
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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."