A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia

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Authors: Margherita Marchi, Vincenzo Provitera, Maria Nolano, Marcello Romano, Simona Maccora, Ilaria D'Amato, Erika Salvi, Monique Gerrits, Lucio Santoro, Giuseppe Lauria

Journal title: Journal of the Peripheral Nervous System

Journal number: 23/3

Journal publisher: Blackwell Publishing Inc.

Published year: 2018

Published pages: 202-206

DOI identifier: 10.1111/jns.12280

ISSN: 1085-9489