Varaico: Literature-Extracted Genetic Variants

Gene:MMACHC
Variant:p.W157*
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MMACHC

NM_015506.3:p.W157*

Associated Papers

A study of Iraqi patients with homocysteine remethylation disorders in a tertiary pediatric centre.

Al-Tai MR et al.

Molecular Genetics and Metabolism Reports, 2025

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

Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.

Brooks BP et al.

Ophthalmology, 2016

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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."