Varaico: Literature-Extracted Genetic Variants

Gene:TULP1
Variant:p.I530M
Back to variants list

TULP1

NM_003322.6:p.I530M

Associated Papers

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

Bodenbender JP et al.

International Journal of Molecular Sciences, 2023

Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.

Bernardis I et al.

Biomed Research International, 2016

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."