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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MOCS2

Variant:p.G126Splc

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MOCS2

NM_004531.5:p.G126Splc

hg38:chr5:53101358 C>T

Associated Papers

A New Pattern of Brain and Cord Gadolinium Enhancement in Molybdenum Cofactor Deficiency: A Case Report.

Lucignani G et al.

Children (basel, Switzerland), 2023

37371303 (PubMed )

Molybdenum cofactor deficiency: A natural history.

Spiegel R et al.

Journal of Inherited Metabolic Disease, 2022

35192225 (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."