Varaico: Literature-Extracted Genetic Variants

Gene:DCPS
Variant:p.K67R
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DCPS

NM_014026.6:p.K67R

Associated Papers

The first case of Al-Raqad syndrome in Japan is associated with a homozygous DCPS exonic variant resulting in aberrant splicing.

Nozaki H et al.

Brain & Development, 2025

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