Varaico: Literature-Extracted Genetic Variants

Gene:TAPT1
Variant:p.D353V
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TAPT1

NM_153365.3:p.D353V

Associated Papers

A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract.

Jarayseh T et al.

Human Genetics, 2023

Transmembrane anterior posterior transformation 1 regulates BMP signaling and modulates the protein stability of SMAD1/5.

Wang B et al.

The Journal of Biological Chemistry, 2022

Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia.

Symoens S et al.

American Journal of Human Genetics, 2015

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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."