Varaico: Literature-Extracted Genetic Variants

Gene:TRPS1
Variant:p.H940fs
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TRPS1

NM_014112.5:p.H940fs

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

Novel TRPS1 frameshift variant in tricho-rhino-phalangeal syndrome type I accompanied by zinc deficiency.

Yagasaki H et al.

European Journal of Medical Genetics, 2023

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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