Varaico: Literature-Extracted Genetic Variants

Gene:HTT
Variant:p.L2719Q
Back to variants list

HTT

NM_001388492.1:p.L2719Q

Associated Papers

Description of the First Registered Case of Lopes-Maciel-Rodan Syndrome in Russia.

Koshevaya YS et al.

International Journal of Molecular Sciences, 2022

Hypomorphic mutation of the mouse Huntington's disease gene orthologue.

Murthy V et al.

Plos 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."