Associated Papers
LRP1B mutation is associated with tumor HPV status and promotes poor disease outcomes with a higher mutation count in HPV-related cervical carcinoma and head & neck squamous cell carcinoma.
Cao CH et al.
International Journal of Biological Sciences, 2021
33994859 (PubMed )
Supplement: ijbsv17p1744s2.xls › S3_Me180_mutation_genes
Arterial complications in classical Ehlers-Danlos syndrome: a case series.
Angwin C et al.
Journal of Medical Genetics, 2020
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.
Symoens S et al.
Human Mutation, 2012
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