Varaico: Literature-Extracted Genetic Variants

Gene:SCN7A
Variant:p.M600L
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SCN7A

NM_002976.4:p.M600L

Associated Papers

Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.

Salfati EL et al.

Genome Medicine, 2019

31847883 (PubMed )
Supplement: 13073_2019_702_MOESM1_ESM.xlsx › Table_S3A
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