Varaico: Literature-Extracted Genetic Variants

Gene:THSD1
Variant:p.R441_A443delFs
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THSD1

NM_018676.4:p.R441_A443delFs

Associated Papers

Resolving fetal hydrops - A rare entity.

Saxena D et al.

European Journal of Medical Genetics, 2023

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

Novel genetic variants of inborn errors of immunity.

Almarzooqi F et al.

Plos One, 2021

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

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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."