Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.D207_V209del3
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PRPH2

NM_000322.5:p.D207_V209del3

Associated Papers

Phenotypic and Genetic Heterogeneity of a Pakistani Cohort of 15 Consanguineous Families Segregating Variants in Leber Congenital Amaurosis-Associated Genes.

Akhtar Z et al.

Genes, 2024

39766915 (PubMed )
Supplement: genes-15-01646-s001.zip › genes-3342075-supplementary_Table_S1.xlsx › Variants_interpretation_data
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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."