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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MOCS2

Variant:p.S89I

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MOCS2

NM_004531.5:p.S89I

hg38:chr5:53101470 C>A

Associated Papers

A neonate with molybdenum cofactor deficiency type B.

Lin Y et al.

Translational Pediatrics, 2021

34012852 (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."