Varaico: Literature-Extracted Genetic Variants

Gene:BRD4
Variant:p.Y430C
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BRD4

NM_001379291.1:p.Y430C

Associated Papers

BRD2 promotes antibody class switch recombination by facilitating DNA repair in collaboration with NIPBL.

Gothwal SK et al.

Nucleic Acids Research, 2024

Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.

Tran Mau-Them F et al.

Frontiers in Genetics, 2023

Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.

Jouret G et al.

Clinical Genetics, 2022

Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect.

Olley G et al.

Nature Communications, 2021

BETting on a Transcriptional Deficit as the Main Cause for Cornelia de Lange Syndrome.

García-Gutiérrez P et al.

Frontiers in Molecular Biosciences, 2021

Cornelia de Lange Syndrome as Paradigm of Chromatinopathies.

Parenti I et al.

Frontiers in Neuroscience, 2021

Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome.

Alesi V et al.

Annals of Human Genetics, 2019

BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.

Olley G et al.

Nature Genetics, 2018

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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."