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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MOCS1

Variant:p.S415_S418del0

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MOCS1

NM_001358530.2:p.S415_S418del0

hg38:chr6:39907014 GCTGGAGAAA>G

Associated Papers

A prevalent MOCS2 variant in the Roma population is associated with a novel mild form of molybdenum cofactor deficiency.

Cho SK et al.

European Journal of Pediatrics, 2025

40707723 (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."