Varaico: Literature-Extracted Genetic Variants

Gene:PRDM5
Variant:p.V627I
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PRDM5

NM_018699.4:p.V627I

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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