Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.R1647_S1658del12
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ABCA4

NM_000350.3:p.R1647_S1658del12

Associated Papers

Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.

Nassisi M et al.

International Journal of Molecular Sciences, 2018

30060493 (PubMed )
Supplement: ijms-19-02196-s001.zip › Supplementary_Table_S1_-_Variants_Analysis.xlsx › In-frame_del
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