Varaico: Literature-Extracted Genetic Variants

Gene:HCN1
Variant:p.V390A
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HCN1

NM_021072.4:p.V390A

Associated Papers

HCN1 pathogenic variants associated with childhood epilepsy in a cohort of Chinese patients.

Yang Z et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2024

Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.

French CE et al.

Hgg Advances, 2022

35586607 (PubMed )
Supplement: mmc2.xlsx › Sheet1
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