Varaico: Literature-Extracted Genetic Variants

Gene:THSD1
Variant:p.R388fs
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THSD1

NM_199263.3:p.R388fs

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

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."