Publications
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Author Title [ Year
] Filters: Keyword is Homozygote and Author is Maselli, Ricardo A [Clear All Filters]
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission. Am J Med Genet A 173, 2240-2245 (2017).
