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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PNPLA6

Variant:p.L1051S

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PNPLA6

NM_001166111.2:p.L1051S

hg38:chr19:7556481 T>C

Associated Papers

BOUCHER-NEUHAUSER SYNDROME: CHORIORETINAL CHANGES IN A SINGLE CASE OVER TIME.

Adeghate JO et al.

Retinal Cases & Brief Reports, 2025

38447053 (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."