Varaico: Literature-Extracted Genetic Variants

Gene:TRPS1
Variant:p.H614H
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TRPS1

NM_014112.5:p.H614H

Associated Papers

TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology.

Nik Kantaputra P et al.

The Journal of Dermatology, 2020

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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."