Varaico: Literature-Extracted Genetic Variants

Gene:PATJ
Variant:p.L764L
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PATJ

NM_001350145.3:p.L764L

Associated Papers

Clinical and Therapeutic Evaluation of the Ten Most Prevalent CRB1 Mutations.

Lopes da Costa B et al.

Biomedicines, 2023

Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) Gene.

Cordovez JA et al.

Ophthalmic Genetics, 2015

CRB1 mutation spectrum in inherited retinal dystrophies.

den Hollander AI et al.

Human Mutation, 2004

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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."