Varaico: Literature-Extracted Genetic Variants

Gene:GDF1
Variant:p.W203*
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GDF1

NM_001492.6:p.W203*

Associated Papers

Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.

Bolkier Y et al.

Journal of Medical Genetics, 2022

A founder truncating variant in GDF1 causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds.

Marek-Yagel D et al.

American Journal of Medical Genetics. Part A, 2020

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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."