Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.L282V
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PSAP

NM_002778.4:p.L282V

Associated Papers

Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations.

Gómez-Tortosa E et al.

Journal of Alzheimer's Disease : Jad, 2010

Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.

Larner AJ et al.

Journal of Neurology, 2006

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

Vervoort R et al.

Human Mutation, 2002

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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."