Varaico: Literature-Extracted Genetic Variants

Gene:MMAA
Variant:p.G245Splc
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MMAA

NM_172250.3:p.G245Splc

Associated Papers

Improving methylmalonic acidemia (MMA) screening and MMA genotype prediction using random forest classifier in two Chinese populations.

Yin Z et al.

European Journal of Medical Research, 2024

[Genetic analysis of 21 cases of methylmalonic acidemia].

Wang X et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022

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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."