Varaico: Literature-Extracted Genetic Variants

Gene:CRYBG2
Variant:p.P243_S247delFs
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CRYBG2

NM_001039775.4:p.P243_S247delFs

Associated Papers

Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.

Hall HN et al.

Journal of Medical Genetics, 2024

38050128 (PubMed )
Supplement: EMS194103-supplement-Supplementary_Materials.pdf
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