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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MLYCD

Variant:p.E214Splc

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MLYCD

NM_012213.3:p.E214Splc

hg38:chr16:83907104 G>C

Associated Papers

A case of malonyl coenzyme A decarboxylase deficiency with novel mutations and literature review.

Zhao C et al.

Frontiers in Pediatrics, 2023

37144154 (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."