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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN2A

Variant:p.R1324_V1325Splc

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SCN2A

NM_001040142.2:p.R1324_V1325Splc

hg38:chr2:165373351 A>G

Associated Papers

Further delineation of phenotypic spectrum of SCN2A-related disorder.

Richardson R et al.

American Journal of Medical Genetics. Part A, 2022

34894057 (PubMed )

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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."