Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.I143fs
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SMC1A

NM_006306.4:p.I143fs

Associated Papers

Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study.

Duan J et al.

Brain : a Journal of Neurology, 2022

35231114 (PubMed )
Supplement: awac053_supplementary_data.zip › brain-2021-02368-File005.pdf

[Developmental and epileptic encephalopathy 85 caused by SMC1A gene truncating variation: 4 cases report and literature review].

Ye YZ et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2022

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