Varaico: Literature-Extracted Genetic Variants

Gene:TAPT1
Variant:p.D369_V370Splc
Back to variants list

TAPT1

NM_153365.3:p.D369_V370Splc

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

Golgi Dysfunctions in Ciliopathies.

Masson J et al.

Cells, 2022

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

Symoens S et al.

American Journal of Human Genetics, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."