Varaico: Literature-Extracted Genetic Variants

Gene:THBS1
Variant:p.R1034G
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THBS1

NM_003246.4:p.R1034G

Associated Papers

Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma.

Fu H et al.

The Journal of Clinical Investigation, 2022

36453543 (PubMed )
Supplement: jci-132-156967-s029.pdf
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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."