Varaico: Literature-Extracted Genetic Variants

Gene:TGDS
Variant:p.D299N
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TGDS

NM_014305.4:p.D299N

Associated Papers

Zebrafish as a model for Catel-Manzke syndrome-identification and characterization of the zebrafish TGDS ortholog.

Coppola MR et al.

The Febs Journal, 2025

TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy.

Boschann F et al.

American Journal of Medical Genetics. Part A, 2020

Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus.

Schoner K 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."