Large scale validation of functional expression of ClC-1 variants in genetic counselling of myotonia congenital

Authors :: Stephanie Schorge
S. McCall
Roope Männikkö
Michael G. Hanna
K. Suetterlin
Doreen Fialho
E. Matthews
J. Burge
Mary G. Sweeney
H Houlden
A Haworth
Richa Sud
Source :: Neuromuscular Disorders. 27:S165
Publication Year :: 2017
Publisher :: Elsevier BV, 2017.

Subjects :: Genetics
Neurology
business.industry
Functional expression
Genetic counseling
Pediatrics, Perinatology and Child Health
Medicine
Neurology (clinical)
business
Myotonia
medicine.disease
Scale validation
Genetics (clinical)

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