Varaico: Literature-Extracted Genetic Variants

Gene:HEXA
Variant:p.L274Q
Back to variants list

HEXA

NM_000520.6:p.L274Q

Associated Papers

Identification of a novel HEXB Mutation in an Iranian Family with suspected patient to GM2-gangliosidoses.

Mansouri-Movahed F et al.

Clinical Case Reports, 2020

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."