Varaico: Literature-Extracted Genetic Variants

Gene:TRPS1
Variant:p.S502fs
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TRPS1

NM_014112.5:p.S502fs

Associated Papers

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies.

Saeki N et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2025

Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.

Herlin LK et al.

European Journal of Medical Genetics, 2024

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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."