PMID 26650189 2016 Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.
PMID 23167872 2013 Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.
PMID 25803691 2015 Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.
rs587777893 in
MTOR gene and
Anteverted nostril
PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
rs121908557 in
SCN4A;LOC105371858 gene and
Anteverted nostril
PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
PMID 19065518 2008 [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis].