Varaico: Literature-Extracted Genetic Variants

Gene:THSD1
Variant:p.R450*
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THSD1

NM_018676.4:p.R450*

Associated Papers

THSD1 Is a Multifaceted Regulator in Health and Disease.

Dai M et al.

Biomedicines, 2025

Role of Rare Genetic Variants Found in Families With Intracranial Aneurysms in the General Dutch and UK Population.

Bakker MK et al.

Stroke, 2021

Genetics of Intracranial Aneurysms.

Bakker MK et al.

Stroke, 2021

Manifestations of thrombospondin type-1 domain-containing protein 1 gene mutation in an extremely premature infant with nonimmune hydrops fetalis.

Al Rawi WN et al.

American Journal of Medical Genetics. Part A, 2021

Intracranial Aneurysms: Pathology, Genetics, and Molecular Mechanisms.

Xu Z et al.

Neuromolecular Medicine, 2019

A recessive truncating variant in thrombospondin-1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family.

Abdelrahman HA et al.

American Journal of Medical Genetics. Part A, 2018

The Intracranial Aneurysm Gene THSD1 Connects Endosome Dynamics to Nascent Focal Adhesion Assembly.

Rui YN et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2017

THSD1 (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage.

Santiago-Sim T et al.

Stroke, 2016

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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."