Varaico: Literature-Extracted Genetic Variants

Gene:STK32C
Variant:p.V88Splc
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STK32C

NM_173575.4:p.V88Splc

Associated Papers

SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis.

Bögershausen N et al.

Jci Insight, 2025

40131364 (PubMed )
Supplement: jciinsight-10-173484-s116.xlsx › Tabelle1
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