Varaico: Literature-Extracted Genetic Variants

Gene:MYO7A
Variant:p.P1183delFs
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MYO7A

NM_000260.4:p.P1183delFs

Associated Papers

Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy.

Testa F et al.

Investigative Ophthalmology & Visual Science, 2024

38884554 (PubMed )
Supplement: iovs-65-6-25_s003.xlsx › DOMAIN_annotation

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Karali M et al.

Scientific Reports, 2022

36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S2
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