Varaico: Literature-Extracted Genetic Variants

Gene:BRD1
Variant:p.E126*
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BRD1

NM_001304808.3:p.E126*

Associated Papers

The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases.

Rose CS et al.

Human Molecular Genetics, 1997

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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."