Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC2
Variant:p.Y127C
Back to variants list

SPTLC2

NM_004863.4:p.Y127C

Associated Papers

Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing.

Theuriet J et al.

European Journal of Human Genetics : Ejhg, 2024

37337091 (PubMed )
Supplement: 41431_2023_1407_MOESM1_ESM.pdf
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."