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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CPAMD8

Variant:p.S948delFs

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CPAMD8

NM_015692.5:p.S948delFs

hg38:chr19:16938396 AC>A

Associated Papers

Anterior megalophthalmos associated with CPAMD8 mutation: a case report.

Ninet L et al.

Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2026

41654108 (PubMed )

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