Associated Papers
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.
Dawood M et al.
Genome Medicine, 2024
39627863 (PubMed )
Supplement: 13073_2024_1392_MOESM1_ESM.xlsx › Table_S19
Mutation landscape in Chinese nodal diffuse large B-cell lymphoma by targeted next generation sequencing and their relationship with clinicopathological characteristics.
Cao B et al.
Bmc Medical Genomics, 2024
38609996 (PubMed )
Supplement: 12920_2024_1866_MOESM1_ESM.pdf
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
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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