Varaico: Literature-Extracted Genetic Variants

Gene:TULP1
Variant:p.P499fs
Back to variants list

TULP1

NM_003322.6:p.P499fs

Associated Papers

Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype.

Esteve-Garcia A et al.

Frontiers in Genetics, 2024

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

Bodenbender JP et al.

International Journal of Molecular Sciences, 2023

Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.

Ullah I et al.

Molecular Vision, 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."