Varaico: Literature-Extracted Genetic Variants

Gene:TRPS1
Variant:p.Q689*
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TRPS1

NM_014112.5:p.Q689*

Associated Papers

A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene.

E C et al.

Clinical Case Reports, 2025

A novel mutation in TPRS1 gene caused tricho-rhino-phalangeal syndrome in a Chinese patient with severe osteoporosis.

Shao C et al.

Chinese Medical Journal, 2011

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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."