Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.P19H
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RP1L1

NM_178857.6:p.P19H

Associated Papers

Biallelic occult macular dystrophy.

Ghali N et al.

Ophthalmic Genetics, 2024

Research progress of RP1L1 gene in disease.

Liu J et al.

Gene, 2024

RP1L1 rs3924612 gene polymorphism and RP1L1 protein associations among patients with early age-related macular degeneration.

Daniute G et al.

Ophthalmic Genetics, 2022

Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.

Tang CSM et al.

Jci Insight, 2022

34905512 (PubMed )
Supplement: jciinsight-7-152198-s012.xlsx › SupplTable8._Rec_PseudoCtCADD20

Whole-exome sequencing identifies novel mutations in genes responsible for retinitis pigmentosa in 2 nonconsanguineous Chinese families.

Hu YS et al.

International Journal of Ophthalmology, 2019

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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."