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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MOCS2

Variant:p.G126D

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MOCS2

NM_004531.5:p.G126D

hg38:chr5:53101359 C>T

Associated Papers

Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.

Reiss J et al.

Human Mutation, 2011

21031595 (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."