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REFERENCE SEQUENCE

REFERENCE SEQUENCE
What is a reference sequence?

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  • CONGENITAL MYASTHENIC SYNDROME GENES: IS CHNRG TESTING APPROPRIATE?
    Congenital myasthenic syndromes (CMS) are characterized by fatigable weakness of skeletal muscle (e.g., ocular, bulbar, limb muscles) with...
  • GRISCELLI SYNDROME
    Griscelli syndrome is an autosomal recessively inherited disease characterised by reduced pigmentation of the skin and hair (hypomelanosis)...
  • PRUNE-BELLY SYNDROME: TREATMENT UPDATES
    Prune-belly syndrome is a rare disease whose incidence is estimated in 1 case every 35.000/50.000 live births. The syndrome affects almost ...
  • PHARMACOGENOMICS
    Pharmacogenomics (sometimes referred to also as pharmacogenetics ) is a discipline aimed to identify human genetic traits which can be asso...
  • 17q24.2-q24.3 MICRODELETION SYNDROME (GENERALIZED HYPERTRICHOSIS TERMINALIS, WITH OR WITHOUT GINGIVAL HYPERPLASIA)
    The ensemble of extreme hirsutism with gingival fibromatosis was originally described as a dominant trait. Hypertrichosis may be pres...
  • THE DIFFERENTIAL DIAGNOSIS OF CMT4
    The diagnosis of Charcot-Marie-Tooth neuropathy type 4 requires clinical, pathologic, and genetic confirmation. Mutations causing CMT4 can...
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