Varaico: Literature-Extracted Genetic Variants

Gene:DLL4
Variant:p.R558*
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DLL4

NM_019074.4:p.R558*

Associated Papers

Adams-Oliver Syndrome: A Comprehensive Literature Review of Clinical, Nutritional, Genetic, and Molecular Aspects with Nursing Care Considerations.

Badiu Tișa I et al.

International Journal of Molecular Sciences, 2025

A novel DLL4 mutation in Adams-Oliver syndrome with absence of the right pulmonary artery in newborn.

Rojnueangnit K et al.

American Journal of Medical Genetics. Part A, 2022

Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.

Nagasaka M et al.

Journal of Human Genetics, 2017

The developmental biology of genetic Notch disorders.

Mašek J et al.

Development (cambridge, England), 2017

28512196 (PubMed )
Supplement: supplement_1.pdf

DLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome.

Aminkeng F

Clinical Genetics, 2015

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.

Meester JA et al.

American Journal of Human Genetics, 2015

Frequency and distribution of Notch mutations in tumor cell lines.

Mutvei AP et al.

Bmc Cancer, 2015

25907971 (PubMed )
Supplement: 12885_2015_1278_MOESM2_ESM.xlsx › suppdatagrejen
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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."