Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.L812_L813Splc
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SCN5A

NM_000335.5:p.L812_L813Splc

Associated Papers

ParSE-seq: a calibrated multiplexed assay to facilitate the clinical classification of putative splice-altering variants.

O'Neill MJ et al.

Nature Communications, 2024

39333091 (PubMed )
Supplement: 41467_2024_52474_MOESM1_ESM.pdf
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