Varaico: Literature-Extracted Genetic Variants

Gene:TRPS1
Variant:p.G133fs
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TRPS1

NM_014112.5:p.G133fs

Associated Papers

Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly.

Elli FM et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022

34897794 (PubMed )
Supplement: JBMR-37-465-s001.pdf

A novel TRPS1 mutation in a family with tricho-rhino-phalangeal syndrome type 1.

Fujisawa T et al.

The Journal of Dermatology, 2014

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