Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.
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Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.
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Mutations outside the N-termin ...... e genotype-phenotype spectrum.
@en
Mutations outside the N-termin ...... e genotype-phenotype spectrum.
@nl
type
label
Mutations outside the N-termin ...... e genotype-phenotype spectrum.
@en
Mutations outside the N-termin ...... e genotype-phenotype spectrum.
@nl
prefLabel
Mutations outside the N-termin ...... e genotype-phenotype spectrum.
@en
Mutations outside the N-termin ...... e genotype-phenotype spectrum.
@nl
P2093
P2860
P50
P1433
P1476
Mutations outside the N-termin ...... he genotype-phenotype spectrum
@en
P2093
Alexander Zimprich
Andreas Hahn
Anne Schänzer
Elisabeth Salzer
Fritz Zimprich
Ingrid Simonitsch-Klupp
Jakob Rath
Kaan Boztug
Klaus G Schmetterer
Manfred W Kilimann
P2860
P2888
P304
P356
10.1007/S00415-017-8710-X
P577
2017-12-19T00:00:00Z