Varaico: Literature-Extracted Genetic Variants

Gene:MMACHC
Variant:p.P3R
Back to variants list

MMACHC

NM_015506.3:p.P3R

Associated Papers

Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing.

Gaouzi Z et al.

Plos One, 2025

Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome.

Connaughton DM et al.

Journal of Molecular Medicine (berlin, Germany), 2023

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-7.xlsx › S_Data_6
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."