Varaico: Literature-Extracted Genetic Variants

Gene:MCCC2
Variant:p.Q496H
Back to variants list

MCCC2

NM_022132.5:p.Q496H

Associated Papers

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.

Zhang R et al.

Scientific Reports, 2021

Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.

Shepard PJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations.

Jung CW et al.

Journal of Human Genetics, 2012

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."