Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1A
Variant:p.E292K
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CACNA1A

NM_001127222.2:p.E292K

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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