Varaico: Literature-Extracted Genetic Variants

Gene:GDF1
Variant:p.R68H
Back to variants list

GDF1

NM_001492.6:p.R68H

Associated Papers

Partial atrioventricular canal defect and aortic coarctation associated with variants in GDF1 and NOTCH1 genes: A case report.

Putotto C et al.

Birth Defects Research, 2024

Endoplasmic Reticulum Associated Protein Degradation (ERAD) in the Pathology of Diseases Related to TGFβ Signaling Pathway: Future Therapeutic Perspectives.

Gariballa N et al.

Frontiers in Molecular Biosciences, 2020

Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.

Karkera JD et al.

American Journal of Human Genetics, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."