Varaico: Literature-Extracted Genetic Variants

Gene:TRPS1
Variant:p.Y928C
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TRPS1

NM_014112.5:p.Y928C

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

Severe brachydactyly and short stature resulting from a novel pathogenic TRPS1 variant within the GATA DNA-binding domain.

Karaca A et al.

Bone, 2019

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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."