Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.V116delFs
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MMUT

NM_000255.4:p.V116delFs

Associated Papers

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.

Zhang R et al.

Scientific Reports, 2021

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

Kang L et al.

Journal of Inherited Metabolic Disease, 2020

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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."