Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.M577fs
Back to variants list

SPAST

NM_014946.4:p.M577fs

Associated Papers

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.

Marchant RG et al.

Annals of Clinical and Translational Neurology, 2024

38544359 (PubMed )
Supplement: ACN3-11-1250-s001.xlsx › Supplementary_Table_1
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."