Varaico: Literature-Extracted Genetic Variants

Gene:TULP1
Variant:p.Q492R
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TULP1

NM_003322.6:p.Q492R

Associated Papers

Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.

Bodenbender JP et al.

International Journal of Molecular Sciences, 2023

Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity.

Tajiguli A et al.

Scientific Reports, 2016

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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."