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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:THBS1

Variant:p.C395C

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THBS1

NM_003246.4:p.C395C

hg38:chr15:39587411 T>C

Associated Papers

Thrombospondin Mutations and Patients With Primary Congenital Glaucoma in a United States Population.

Boese EA et al.

Journal of Glaucoma, 2023

37327471 (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."