Varaico: Literature-Extracted Genetic Variants

Gene:SYNE1
Variant:p.L889V
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SYNE1

NM_182961.4:p.L889V

Associated Papers

Variable Penetrance and Expressivity of a Rare Pore Loss-of-Function Mutation (p.L889V) of Nav1.5 Channels in Three Spanish Families.

Gallego-Delgado M et al.

International Journal of Molecular Sciences, 2024

38731905 (PubMed )
Supplement: ijms-25-04686-s001.zip › ijms-2913894-supplementary.pdf
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