Results 111 to 120 of about 13,589 (213)

Novel frameshift variant in exon 7 of <i>COL17A1</i> in a domestic shorthair kitten with junctional epidermolysis bullosa. [PDF]

open access: yesJ Vet Diagn Invest
Fussell D   +6 more
europepmc   +1 more source

A Silent COL17A1 Variant Alters Splicing and Causes Junctional Epidermolysis Bullosa.

open access: yesActa Dermato-Venereologica, 2019
J. Hoffmann   +5 more
semanticscholar   +1 more source

Adult-onset PLEC-related congenital myasthenic syndrome-myopathy overlap with upper limb predominant weakness. [PDF]

open access: yesNeurogenetics
Jose A   +8 more
europepmc   +2 more sources

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