Varaico: Literature-Extracted Genetic Variants

Gene:FTL
Variant:p.E54K
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FTL

NM_000146.4:p.E54K

Associated Papers

Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family.

Li B et al.

Journal of Ophthalmology, 2020

32148946 (PubMed )
Supplement: 7054315.f1.pdf
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