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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRPF8

Variant:p.E2307_V2308del1

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PRPF8

NM_006445.4:p.E2307_V2308del1

hg38:chr17:1650887 ACCT>A

Associated Papers

Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan.

Basharat R et al.

Experimental Eye Research, 2024

38815792 (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."