Varaico: Literature-Extracted Genetic Variants

Gene:THBS1
Variant:p.K430K
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THBS1

NM_003246.4:p.K430K

Associated Papers

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

Boese EA et al.

Journal of Glaucoma, 2023

A systematic review of genetic mutations in pulmonary arterial hypertension.

Garcia-Rivas G et al.

Bmc Medical Genetics, 2017

28768485 (PubMed )
Supplement: 12881_2017_440_MOESM1_ESM.xlsx › table-mutations-per-gene

Common and rare variants of the THBS1 gene associated with the risk for autism.

Lu L et al.

Psychiatric Genetics, 2014

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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."