Varaico: Literature-Extracted Genetic Variants

Gene:TRPS1
Variant:p.A932T
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TRPS1

NM_014112.5:p.A932T

Associated Papers

The Clinical and Molecular Spectrum of Trichorhinophalangeal Syndrome Types I and II in a Turkish Cohort Involving 22 Patients.

Güneş N et al.

Turkish Archives of Pediatrics, 2023

Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report.

Su W et al.

Bmc Medical Genetics, 2018

A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report.

Smaili W et al.

Bmc Medical Genetics, 2017

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

Maas SM et al.

European Journal of Medical Genetics, 2015

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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."