Varaico: Literature-Extracted Genetic Variants

Gene:TRPS1
Variant:p.P141L
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TRPS1

NM_014112.5:p.P141L

Associated Papers

The Value of a Comprehensive Genomic Evaluation in Prenatal Diagnosis of Genetic Diseases: A Retrospective Study.

Fu F et al.

Genes, 2022

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

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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."