Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.P136H
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TWIST1

NM_000474.4:p.P136H

Associated Papers

Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family.

Lamônica DA et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2010

Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.

de Heer IM et al.

Plastic and Reconstructive Surgery, 2005

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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."