Varaico: Literature-Extracted Genetic Variants

Gene:BRD4
Variant:p.H304Y
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BRD4

NM_001379291.1:p.H304Y

Associated Papers

Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.

Williams EA et al.

Acta Neuropathologica Communications, 2020

33087175 (PubMed )
Supplement: 40478_2020_1040_MOESM1_ESM.xlsx › Sheet1

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.

Nabais Sá MJ et al.

American Journal of Human Genetics, 2020

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

Olley G et al.

Nature Genetics, 2018

Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies.

Jin HS et al.

Plos One, 2017

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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."