Associated Papers
Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1.
Yang L et al.
Bmc Medical Genomics, 2023
[Genetic analysis and prenatal diagnosis of a sporadic family with neurofibromatosis type 1].
Liu B et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2019
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