Varaico: Literature-Extracted Genetic Variants

Gene:TULP1
Variant:p.T454M
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TULP1

NM_003322.6:p.T454M

Associated Papers

Single Center Experience with Voretigene Neparvovec Gene Augmentation Therapy in RPE65 Mutation-Associated Inherited Retinal Degeneration in a Clinical Setting.

Lorenz B et al.

Ophthalmology, 2024

Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa.

Hagstrom SA et al.

Nature Genetics, 1998

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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."