Associated Papers
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.
Geroldi A et al.
Journal of Medical Genetics, 2024
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.
Nelen MR et al.
European Journal of Human Genetics : Ejhg, 1999
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