Varaico: Literature-Extracted Genetic Variants

Gene:GABRD
Variant:p.T292M
Back to variants list

GABRD

NM_000815.5:p.T292M

Associated Papers

Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.

Monies D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Monies D et al.

Human Genetics, 2017

28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2
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."