Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.P729_K730insT
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MMUT

NM_000255.4:p.P729_K730insT

Associated Papers

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

Zhu J et al.

Peerj, 2024

Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.

Chu J et al.

Molecular Genetics and Metabolism, 2016

Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients.

Liu MY et al.

Jimd Reports, 2012

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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."