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    • DYSAUTONOMIA FAMILIAL IKBKA GENE MUTATIONS ANALYSIS
    • GAUCHER DISEASE GBA GENE SEQUENCE ANALYSIS
    • HYDROCEPHALUS X LINKED L1CAM GENE DELETIONS DUPLICATIONS ANALYSIS
    • LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1A-LGMD-1A TTIDMYOTGENE SEQUENCE ANALYSIS
    • PANCREATITIS HEREDITARY PRSS 1-GENE SCREENING
    • RETT SYNDROME
    • 40S ribosomal protein S7
    • Alzheimer's disease
    • Clinical implications
    • Deleting exon 55 from the nebulin gene induces severe muscle weakness
    • GENETIC CONSULTATION PROVIDES
    • Polygenic risk scores
    • Multiplex ligation-dependent probe
    • Neonatal Hypoglycemia
    • Pelizaeus-Merzbacher Disease
    • Rapid Detection of Monogenic Causes
    • Aceruloplasminemia: Secuenciación gen CP
    • TEL/AML1 rearrangement
    • Albinismo oculocutáneo tipo 1: Secuenciación gen TYR
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