Varaico: Literature-Extracted Genetic Variants

Gene:MMAB
Variant:p.C189Y
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MMAB

NM_052845.4:p.C189Y

Associated Papers

Prenatal Diagnosis of Two Common Inborn Errors of Metabolism by Genetic and Mass Spectrometric Analysis of Amniotic Fluid.

Shi C et al.

Frontiers in Pediatrics, 2022

[Clinical and variant analysis of 15 patients with methylmalonic acidemia].

Xiong H et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019

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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."