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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MMACHC

Variant:p.K220fs

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MMACHC

NM_015506.3:p.K220fs

hg38:chr1:45509024 AAG>N

Associated Papers

Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022.

Wang D et al.

Frontiers in Genetics, 2024

38863445 (PubMed )

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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."