Varaico: Literature-Extracted Genetic Variants

Gene:MCCC1
Variant:p.Q372P
Back to variants list

MCCC1

NM_020166.5:p.Q372P

Associated Papers

Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.

Rips J et al.

Journal of Inherited Metabolic Disease, 2016

3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.

Grünert SC et al.

Orphanet Journal of Rare Diseases, 2012

Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria.

Desviat LR et al.

Molecular Genetics and Metabolism, 2003

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."