Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.S1830R
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TNXB

NM_001365276.2:p.S1830R

Associated Papers

Elucidating the Molecular Basis in a Cohort of Patients With Combined Bleeding Tendencies and Joint Hypermobility Manifestations.

Bandini P et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025

Genetic Variants in the Extracellular Matrix Gene TNXB Predicted to Alter Fibronectin III Domains in Arterial Aneurysmal and Dissection Diseases.

Norgan Radler C et al.

International Journal of Molecular Sciences, 2025

Children with vesicoureteric reflux have joint hypermobility and occasional tenascin XB sequence variants.

Tokhmafshan F et al.

Canadian Urological Association Journal = Journal De L'association Des Urologues Du Canada, 2020

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Seddon JM et al.

Nature Genetics, 2013

24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B
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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."