Varaico: Literature-Extracted Genetic Variants

Gene:TRPS1
Variant:p.W1123*
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TRPS1

NM_014112.5:p.W1123*

Associated Papers

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

Huang D et al.

Children (basel, Switzerland), 2022

Modeling molecular development of breast cancer in canine mammary tumors.

Graim K et al.

Genome Research, 2021

33361113 (PubMed )
Supplement: supp_gr.256388.119_Supplemental_Table_S4.xlsx › Supplemental_Table_S4

A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature.

Merjaneh L et al.

International Journal of Pediatric Endocrinology, 2014

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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."