Varaico: Literature-Extracted Genetic Variants

Gene:ADAM22
Variant:p.Q811Q
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ADAM22

NM_001324418.2:p.Q811Q

Associated Papers

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.

van der Knoop MM et al.

Brain : a Journal of Neurology, 2022

35373813 (PubMed )
Supplement: awac116_supplementary_data.zip › brain-2021-02009-File006.pdf
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