Lv2
126 积分 2020-08-13 加入
Mechanistic insight into the destabilization of p53TD tetramer by cancer-related R337H mutation: a molecular dynamics study
18天前
已完结
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
19天前
已完结
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
19天前
已完结
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene
19天前
已完结
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
19天前
已完结
Typical NF2 and LTZR1 mutations are retained in an immortalized human schwann cell model of schwannomatosis
21天前
已完结
The BACK domain in BTB-kelch proteins
27天前
已完结
Clinical features of spinal schwannomas in 65 patients with schwannomatosis compared with 831 with solitary schwannomas and 102 with neurofibromatosis Type 2: a retrospective study at a single institution
27天前
已完结
CDKN2Amutations with p14 loss predisposing to multiple nerve sheath tumours, melanoma, dysplastic naevi and internal malignancies: a case series and review of the literature
1个月前
已完结
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome
1个月前
已完结
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