Varaico: Literature-Extracted Genetic Variants

Gene:ADGRV1
Variant:p.E2363K
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ADGRV1

NM_032119.4:p.E2363K

Associated Papers

Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.

Lin S et al.

Ophthalmology. Retina, 2024

38219857 (PubMed )
Supplement: mmc1.pdf

Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.

Roberts L et al.

Investigative Ophthalmology & Visual Science, 2016

27898983 (PubMed )
Supplement: iovs-57-14-17_s03.xlsx › 226RetnetDATA2P6M6A0ORout
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