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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLEKHM3

Variant:p.S192*

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PLEKHM3

NM_001080475.3:p.S192*

hg38:chr2:208001065 G>T

Associated Papers

Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.

Chan HW et al.

Genes, 2021

33808351 (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."