Varaico: Literature-Extracted Genetic Variants

Gene:MMACHC
Variant:p.G168R
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MMACHC

NM_015506.3:p.G168R

Associated Papers

Rare damaging variants in the sex differences of congenital heart disease: an exome sequencing study.

Sun H et al.

Ebiomedicine, 2025

40347836 (PubMed )
Supplement: mmc4.xlsx › Supplementary_Table_9

Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.

Mao X et al.

Medicine, 2024

39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S3

Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia.

Ching-López A et al.

International Journal of Molecular Sciences, 2021

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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."