Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.M259_Q260Splc
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PSAP

NM_002778.4:p.M259_Q260Splc

Associated Papers

Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.

Erdmann J et al.

Clinical Genetics, 2003

New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene.

Oetting WS

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."