congenital muscular dystrophyResearch
A new machine-readable database has been developed for genotype-phenotype analyses in rare diseases, using FKTN-related congenital muscular dystrophies as a prototype. This resource aims to enhance understanding and research in the field of rare genetic disorders.
machine readable database for genotype phenotype analyses in rare diseases using fktn related congenital muscular dystrophies as a prototype
Original title: “Machine-Readable Database for Genotype-Phenotype Analyses in Rare Diseases Using FKTN-related Congenital Muscular Dystrophies as a Prototype.”