Varaico: Literature-Extracted Genetic Variants

Gene:SMN2
Variant:p.Y43insFs
Back to variants list

SMN2

NM_017411.4:p.Y43insFs

Associated Papers

A Fatal Case of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Term Infant with Severe High Anion Gap Acidosis and Review of the Literature.

Puvabanditsin S et al.

Case Reports in Genetics, 2024

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."