Varaico: Literature-Extracted Genetic Variants

Gene:HEXA
Variant:p.T153_F154Splc
Back to variants list

HEXA

NM_000520.6:p.T153_F154Splc

Associated Papers

Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.

Kaseniit KE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32595206 (PubMed )
Supplement: 41436_2020_869_MOESM2_ESM.xlsx › HEXA

Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India.

Mistri M et al.

Journal of Human Genetics, 2019

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."