Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.K947Splc
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ATP1A2

NM_000702.4:p.K947Splc

Associated Papers

Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.

Akawi N et al.

Frontiers in Molecular Biosciences, 2024

39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S11

No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures.

Martinelli Boneschi F et al.

Neuroscience Letters, 2005

ATP1A2 mutations in 11 families with familial hemiplegic migraine.

Riant F et al.

Human Mutation, 2005

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."