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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYOC

Variant:p.Y347H

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MYOC

NM_000261.2:p.Y347H

hg38:chr1:171636401 A>G

Associated Papers

Genetics of glaucoma.

Wiggs JL et al.

Human Molecular Genetics, 2017

28505344 (PubMed )

Rescue of glaucoma-causing mutant myocilin thermal stability by chemical chaperones.

Burns JN et al.

Acs Chemical Biology, 2010

20334347 (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."