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Phenotypic and genetic characterization of novel variant in the NF1 gene underlying neurofibromatosis type 1 in five Chinese families
Authors:Habulieti  Xiaerbati  Sun  Liwei  Liu  Jiawei  Guo  Kexin  Yang  Xueting  Wang  Rongrong  Ma  Donglai  Zhang  Xue
Affiliation:1.McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, 100005, China
;2.The First Affiliated Hospital of XinJiang Medical University, Wulumuqi, 830001, China
;3.Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing, 100072, China
;
Abstract:Science China Life Sciences -
Keywords:
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