Varaico: Literature-Extracted Genetic Variants

Gene:TRPS1
Variant:p.S1066_S1067delFs
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TRPS1

NM_014112.5:p.S1066_S1067delFs

Associated Papers

Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations.

Gilman JL et al.

American Journal of Medical Genetics. Part A, 2017

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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."