Varaico: Literature-Extracted Genetic Variants

Gene:TOPORS
Variant:p.V787_R788delFs
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TOPORS

NM_005802.5:p.V787_R788delFs

Associated Papers

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM16_ESM.xlsx › Sheet1

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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