Varaico: Literature-Extracted Genetic Variants

Gene:DLL4
Variant:p.Q554*
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DLL4

NM_019074.4:p.Q554*

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

A novel DLL4 missense mutation in a Chinese patient with Adams-Oliver syndrome.

Yu X et al.

Chinese Medical Journal, 2019

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.

Meester JAN et al.

Human Mutation, 2018

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

[Identification of a new missense mutation in a Chinese family with inherited long QT syndrome (no abstract)].

Yang HT et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 2008

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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."