Varaico: Literature-Extracted Genetic Variants

Gene:DIAPH1
Variant:p.R968C
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DIAPH1

NM_005219.5:p.R968C

Associated Papers

Previously defined variants of uncertain significance may play an important role in epilepsy and interactions between certain variants may become pathogenic.

Hussein Y et al.

Epilepsia Open, 2024

39509559 (PubMed )
Supplement: EPI4-9-2443-s002.docx
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