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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PMEL

Variant:p.R223Q

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PMEL

NM_001384361.1:p.R223Q

hg38:chr12:55957635 C>T

Associated Papers

Exome-based investigation of the genetic basis of human pigmentary glaucoma.

van der Heide C et al.

Bmc Genomics, 2021

34174832 (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."