Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.E373insFs
Back to variants list

MMUT

NM_000255.4:p.E373insFs

Associated Papers

C4OH is a potential newborn screening marker-a multicenter retrospective study of patients with beta-ketothiolase deficiency in China.

Lin Y et al.

Orphanet Journal of Rare Diseases, 2021

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."