Varaico: Literature-Extracted Genetic Variants

Gene:MMAA
Variant:p.L217*
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MMAA

NM_172250.3:p.L217*

Associated Papers

Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.

Xi Y et al.

Molecular Genetics & Genomic Medicine, 2020

32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf

A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia.

Kang L et al.

Journal of Inherited Metabolic Disease, 2020

[Acute encephalopathy induced by vaccination in an infant with methylmalonic aciduria cblA].

Liu Y et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015

Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation.

Yang X et al.

Molecular Genetics and Metabolism, 2004

IDENTIFICATION OF A NOVEL MUTATION IN THE MMAA GENE IN A CHINESE BOY WITH ISOLATED METHYLMALONIC ACIDEMIA.

Tang D et al.

Acta Endocrinologica (bucharest, Romania : 2005), 0

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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."