Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.D244fs
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MMUT

NM_000255.4:p.D244fs

Associated Papers

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China.

Zhu J et al.

Peerj, 2024

[Differential diagnosis of a Chinese pedigree with methylmalonic acidemia by next-generation sequencing].

Zhao G et al.

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

Clinical application of NGS-based SNP haplotyping for PGT-M of methylmalonic acidemia.

He B et al.

Systems Biology in Reproductive Medicine, 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."