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Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7).

Authors :
Deuis, Jennifer R
Kumble, Smitha
Keramidas, Angelo
Ragnarsson, Lotten
Simons, Cas
Pais, Lynn
White, Susan M
Vetter, Irina
Source :
Human Molecular Genetics; 1/15/2024, Vol. 33 Issue 2, p103-109, 7p
Publication Year :
2024

Details

Language :
English
ISSN :
09646906
Volume :
33
Issue :
2
Database :
Complementary Index
Journal :
Human Molecular Genetics
Publication Type :
Academic Journal
Accession number :
174643063
Full Text :
https://doi.org/10.1093/hmg/ddad152