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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRPH2

Variant:p.D207_V209del0

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PRPH2

NM_000322.5:p.D207_V209del0

hg38:chr6:42704567 ACGCCGT>A

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 )

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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."