Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.E207V
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ABCA4

NM_000350.3:p.E207V

Associated Papers

The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.

Lam WKJ et al.

The Lancet Regional Health. Western Pacific, 2025

39944418 (PubMed )
Supplement: mmc1.docx
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