How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome
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A. Afenjar | D. Sternberg | S. Chantot-Bastaraud | J. Siffroi | M. Portnoï | B. Chabrol | B. Keren | A. Isapof | S. Whalen | S. Heide | M. Schwartz