Varaico: Literature-Extracted Genetic Variants

Gene:THBS1
Variant:p.Q1089H
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THBS1

NM_003246.4:p.Q1089H

Associated Papers

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

Boese EA et al.

Journal of Glaucoma, 2023

Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity.

Ballonová L et al.

Frontiers in Genetics, 2023

37470035 (PubMed )
Supplement: Table1.XLSX › Table_S3_Deleterious_gene_varia
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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."