Associated Papers
Different epilepsy course of a novel AHDC1 mutation in a female monozygotic twin pair.
Salvati A et al.
Seizure, 2022
Distinguishing between PTEN clinical phenotypes through mutation analysis.
Portelli S et al.
Computational and Structural Biotechnology Journal, 2021
34141133 (PubMed )
Supplement: mmc1.docx
Analyzing aggregation propensities of clinically relevant PTEN mutants: a new culprit in pathogenesis of cancer and other PTENopathies.
Palumbo E et al.
Journal of Biomolecular Structure & Dynamics, 2020
31232187 (PubMed )
Supplement: supplement_1.zip › Supplement_S4_mutants_nochange.xlsx › Mutants_no_change
Predicting the Disease Risk of Protein Mutation Sequences With Pre-training Model.
Li K et al.
Frontiers in Genetics, 2020
33408741 (PubMed )
Supplement: Table_4.XLSX › ___1
Prediction of functionally significant single nucleotide polymorphisms in PTEN tumor suppressor gene: An in silico approach.
Khan I et al.
Biotechnology and Applied Biochemistry, 2017
A clinical and genetic analysis of multiple primary cancer referrals to genetics services.
Whitworth J et al.
European Journal of Human Genetics : Ejhg, 2015
A new insight into structural and functional impact of single-nucleotide polymorphisms in PTEN gene.
George Priya Doss C et al.
Cell Biochemistry and Biophysics, 2013
Cowden syndrome: a critical review of the clinical literature.
Pilarski R
Journal of Genetic Counseling, 2009
Novel germline mutations in the PTEN tumour suppressor gene found in women with multiple cancers.
De Vivo I et al.
Journal of Medical Genetics, 2000
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