Varaico: Literature-Extracted Genetic Variants

Gene:DLL1
Variant:p.D601_I602del1
Back to variants list

DLL1

NM_005618.4:p.D601_I602del1

Associated Papers

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.

Fischer-Zirnsak B et al.

American Journal of Human Genetics, 2019

Whole-exome sequencing identifies germline mutation in TP53 and ATRX in a child with genomically aberrant AT/RT and her mother with anaplastic astrocytoma.

Nordfors K et al.

Cold Spring Harbor Molecular Case Studies, 2018

29602769 (PubMed )
Supplement: supp_mcs.a002246_Supplemental_Table_1.xlsx › Only_in_child

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.

Dubourg C et al.

Human Mutation, 2016

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

NOTCH, a new signaling pathway implicated in holoprosencephaly.

Dupé V et al.

Human Molecular Genetics, 2011

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."