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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AMPD1

Variant:p.P235S

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AMPD1

NM_000036.3:p.P235S

hg38:chr1:114680323 G>A

Associated Papers

Mutations of RPGR in X-linked retinitis pigmentosa (RP3).

Vervoort R et al.

Human Mutation, 2002

11968081 (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."