Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.S1993fs
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ABCA4

NM_000350.3:p.S1993fs

Associated Papers

ABCA4 Variant c.5714+5G>A in Trans With Null Alleles Results in Primary RPE Damage.

Sajovic J et al.

Investigative Ophthalmology & Visual Science, 2023

37728905 (PubMed )
Supplement: iovs-64-12-33_s005.pdf

Natural History of Stargardt Disease: The Longest Follow-Up Cohort Study.

Sajovic J et al.

Genes, 2023

37510299 (PubMed )
Supplement: genes-14-01394-s001.zip › genes-2473122-supplementary › Supplementary_Table_S1.pdf
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