Varaico: Literature-Extracted Genetic Variants

Gene:TULP1
Variant:p.P388S
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TULP1

NM_003322.6:p.P388S

Associated Papers

Elucidating the genetic landscape of inherited retinal disorders in India.

Mathias GP et al.

Human Genomics, 2026

41618455 (PubMed )
Supplement: 40246_2025_903_MOESM1_ESM.pdf

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

Bodenbender JP et al.

International Journal of Molecular Sciences, 2023

36769033 (PubMed )
Supplement: ijms-24-02709-s001.zip › Supplementary_Table_S1.pdf

Genetics of Inherited Retinal Diseases in Understudied Populations.

Kannabiran C et al.

Frontiers in Genetics, 2022

The genetics of rod-cone dystrophy in Arab countries: a systematic review.

Jaffal L et al.

European Journal of Human Genetics : Ejhg, 2021

A novel homozygous missense mutation p.P388S in TULP1 causes protein instability and retinitis pigmentosa.

Woodard DR et al.

Molecular Vision, 2021

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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."