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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TYRP1

Variant:p.E294Q

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TYRP1

NM_000550.3:p.E294Q

hg38:chr9:12698622 G>C

Associated Papers

Identification of genetic variants in five chinese families with keratoconus: Pathogenicity analysis and characteristics of parental corneal topography.

Cheng WY et al.

Frontiers in Genetics, 2022

36276932 (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."