Varaico: Literature-Extracted Genetic Variants

Gene:TRPS1
Variant:p.N952_N953delFs
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TRPS1

NM_014112.5:p.N952_N953delFs

Associated Papers

Characterization of a Novel Frameshift Mutation Within the TRPS1 Gene Causing Trichorhinophalangeal Syndrome Type 1 in a Kindred Cypriot Family.

Ergoren MC et al.

Applied Immunohistochemistry & Molecular Morphology : Aimm, 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."