Varaico: Literature-Extracted Genetic Variants

Gene:TRPS1
Variant:p.R696*
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TRPS1

NM_014112.5:p.R696*

Associated Papers

Recombinant Human Growth Hormone Therapy for Childhood Trichorhinophalangeal Syndrome Type I: A Case Report.

Huang D et al.

Children (basel, Switzerland), 2022

PEDIA: prioritization of exome data by image analysis.

Hsieh TC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1

An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature.

Trippella G et al.

Italian Journal of Pediatrics, 2018

Should Patients with Trichorhinophalangeal Syndrome be Tested for Growth Hormone Deficiency?

Marques JS et al.

Pediatric Endocrinology Reviews : Per, 2015

Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene.

Dias C et al.

Case Reports in Genetics, 2013

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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."