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Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects
8小时前
待确认
Highly Recurrent RET Mutations and Novel Mutations in Genes of the Receptor Tyrosine Kinase and Endothelin Receptor B Pathways in Chinese Patients with Sporadic Hirschsprung Disease
3天前
已完结
Functional definition of the mutation cluster region of adenomatous polyposis coli in colorectal tumours
6天前
已完结
Functional Characterization of the Novel APC N1026S Variant Associated With Attenuated Familial Adenomatous Polyposis
6天前
已完结
Implication of androgen receptor gene dysfunction in human Müllerian duct anomalies
6天前
已完结
Multiple Functional Effects of RET Kinase Domain Sequence Variants in Hirschsprung Disease
10天前
已完结
Mutations in Exon 1 Highlight the Role ofMED12in Uterine Leiomyomas
14天前
已完结
Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome
14天前
已完结
An Intronic Polymorphism of the hMLH1 Gene Contributes Toward Incomplete Genetic Testing for HNPCC
14天前
已完结
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome
15天前
已完结
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