Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.P235S
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PSAP

NM_002778.4:p.P235S

Associated Papers

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

Vervoort R et al.

Human Mutation, 2002

Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W.

Vreken P et al.

Human Genetics, 1997

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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."