Varaico: Literature-Extracted Genetic Variants

Gene:DLL4
Variant:p.R186C
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DLL4

NM_019074.4:p.R186C

Associated Papers

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

Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype.

Dudoignon B et al.

American Journal of Medical Genetics. Part A, 2020

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

EOGT and O-GlcNAc on secreted and membrane proteins.

Varshney S et al.

Biochemical Society Transactions, 2017

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

Meester JA et al.

American Journal of Human Genetics, 2015

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