Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.L774fs
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RP1

NM_006269.2:p.L774fs

Associated Papers

Clinical Characteristics and Genetic Variants of a Large Cohort of Patients with Retinitis Pigmentosa Using Multimodal Imaging and Next Generation Sequencing.

Sather R et al.

International Journal of Molecular Sciences, 2023

37446072 (PubMed )
Supplement: ijms-24-10895-s001.zip › ijms-2370890-supplementary.pdf

Genetic Diagnosis for 64 Patients with Inherited Retinal Disease.

Lynn J et al.

Genes, 2022

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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."