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1 Ergebnisse
1
Clinical spectrum of individuals with pathogenicNF1missense..:
Koczkowska, Magdalena
;
Callens, Tom
;
Chen, Yunjia
...
Human Mutation. 41 (2019) 1 - p. 299-315 , 2019
Link:
https://doi.org/10.1002/humu.23929
RT Journal T1
Clinical spectrum of individuals with pathogenicNF1missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_humu.23929&Exemplar=1&LAN=DE A1 Koczkowska, Magdalena A1 Callens, Tom A1 Chen, Yunjia A1 Gomes, Alicia A1 Hicks, Alesha D. A1 Sharp, Angela A1 Johns, Eric A1 Uhas, Kim Armfield A1 Armstrong, Linlea A1 Bosanko, Katherine Armstrong A1 Babovic‐Vuksanovic, Dusica A1 Baker, Laura A1 Basel, Donald G. A1 Bengala, Mario A1 Bennett, James T. A1 Chambers, Chelsea A1 Clarkson, Lola K. A1 Clementi, Maurizio A1 Cortés, Fanny M. A1 Cunningham, Mitch A1 D'Agostino, M. Daniela A1 Delatycki, Martin B. A1 Digilio, Maria C. A1 Dosa, Laura A1 Esposito, Silvia A1 Fox, Stephanie A1 Freckmann, Mary‐Louise A1 Fauth, Christine A1 Giugliano, Teresa A1 Giustini, Sandra PB Hindawi Limited YR 2019 SN 1059-7794 SN 1098-1004 JF Human Mutation VO 41 IS 1 SP 299 OP 315 LK http://dx.doi.org/https://doi.org/10.1002/humu.23929 DO https://doi.org/10.1002/humu.23929 SF ELIB - SuUB Bremen
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