Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.V219F
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PSAP

NM_002778.4:p.V219F

Associated Papers

Characterization of a Novel Gja8 (Cx50) Mutation in a New Cataract Rat Model.

Shen J et al.

Investigative Ophthalmology & Visual Science, 2023

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.

Millat G et al.

European Journal of Medical Genetics, 0

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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."