Varaico: Literature-Extracted Genetic Variants

Gene:MMACHC
Variant:p.A208_T210del3
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MMACHC

NM_015506.3:p.A208_T210del3

Associated Papers

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

Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese population.

Zhang H et al.

Frontiers in Genetics, 2022

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

Zhang R et al.

Scientific Reports, 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."