Varaico: Literature-Extracted Genetic Variants

Gene:TRPS1
Variant:p.R257*
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TRPS1

NM_014112.5:p.R257*

Associated Papers

A novel TRPS1 mutation in a Chinese patient with trichorhinophalangeal syndrome type I.

Li M et al.

The Journal of Dermatology, 2023

A novel de novo nonsense mutation in the TRPS1 gene in a Japanese patient with tricho-rhino-phalangeal syndrome type I.

Farooq M et al.

International Journal of Dermatology, 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."