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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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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How chromosomal deletions can ...... ongenital myasthenic syndrome.
@en
How chromosomal deletions can ...... ongenital myasthenic syndrome.
@nl
type
label
How chromosomal deletions can ...... ongenital myasthenic syndrome.
@en
How chromosomal deletions can ...... ongenital myasthenic syndrome.
@nl
prefLabel
How chromosomal deletions can ...... ongenital myasthenic syndrome.
@en
How chromosomal deletions can ...... ongenital myasthenic syndrome.
@nl
P2093
P2860
P356
P1476
How chromosomal deletions can ...... ongenital myasthenic syndrome.
@en
P2093
Alexandra Afenjar
Arnaud Isapof
Boris Keren
Brigitte Chabrol
Damien Sternberg
Jean-Pierre Siffroi
Marie-France Portnoï
Sandra Chantot-Bastaraud
Sandra Whalen
P2860
P304
P356
10.1002/AJMG.A.38515
P407
P577
2017-11-12T00:00:00Z