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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRPF6

Variant:p.K856*

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PRPF6

NM_012469.4:p.K856*

hg38:chr20:64031937 A>T

Associated Papers

Mutations of TOPORS identified in families with retinitis pigmentosa.

He K et al.

Ophthalmic Genetics, 2022

35254173 (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."