Varaico: Literature-Extracted Genetic Variants

Gene:BRWD3
Variant:p.T1109Splc
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BRWD3

NM_153252.5:p.T1109Splc

Associated Papers

Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.

Ostrowski PJ et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019

Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.

Grotto S et al.

European Journal of Medical Genetics, 2014

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Tarpey PS et al.

Nature Genetics, 2009

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.

Field M et al.

American Journal of Human Genetics, 2007

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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."