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Paper Details

A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
Am J Med Genet A
12
2017
Author NameAffiliation
Szabolcs SzelingerCenter for Rare Childhood Disorders, Translational Genomics Research Institute
Szabolcs SzelingerTranslational Genomics Research Institute
David W CraigCenter for Rare Childhood Disorders, Translational Genomics Research Institute
David W CraigTranslational Genomics Research Institute
Matthew J HuentelmanCenter for Rare Childhood Disorders, Translational Genomics Research Institute
Matthew J HuentelmanTranslational Genomics Research Institute
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Release 1.2