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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTPN21

Variant:p.S702delins

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PTPN21

NM_007039.4:p.S702delins

hg38:chr14:88479325 CG>GA

Associated Papers

De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.

Manivannan SN et al.

Brain : a Journal of Neurology, 2022

34788397 (PubMed )

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