Varaico: Literature-Extracted Genetic Variants

Gene:CASK
Variant:p.R179delFs
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CASK

NM_001367721.1:p.R179delFs

Associated Papers

A Novel Frameshift CASK Variant in a 6-Month-Old Korean Female Infant with Global Developmental Delay, Progressive Microcephaly, and Pontocerebellar Hypoplasia: A Case Report.

Ahn JH et al.

Annals of Clinical and Laboratory Science, 2022

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