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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TGM3

Variant:p.L487P

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TGM3

NM_003245.4:p.L487P

hg38:chr20:2332128 T>C

Associated Papers

A Novel Mutation p.S93R in CRYBB1 Associated with Dominant Congenital Cataract and Microphthalmia.

Jin A et al.

Current Eye Research, 2020

31566446 (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."