Varaico: Literature-Extracted Genetic Variants

Gene:BRWD3
Variant:p.R316insFs
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BRWD3

NM_153252.5:p.R316insFs

Associated Papers

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

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."