Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.T1089fs
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ABCA4

NM_000350.3:p.T1089fs

Associated Papers

18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.

Kiel C et al.

Scientific Reports, 2024

39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › unsolved_patients
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