Associated Papers
Germline Variants in Patients Affected by Both Uveal and Cutaneous Melanoma.
Johansson PA et al.
Pigment Cell & Melanoma Research, 2025
39315505 (PubMed )
Supplement: PCMR-38-0-s002.xlsx › Table_S2
Correction: "Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders".
Martin S et al.
Bmc Cardiovascular Disorders, 2024
39482628 (PubMed )
Supplement: 12872_2024_4286_MOESM1_ESM.xlsx › Tabelle1
"Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders".
Martin S et al.
Bmc Cardiovascular Disorders, 2024
39068400 (PubMed )
Supplement: 12872_2024_4065_MOESM2_ESM.xlsx › Tabelle1
Clinical Heterogeneity in Patients with Long QT Syndrome and Segregation of Single Nucleotide Variants and Clinical Symptoms in 17 Affected Families.
Bora E et al.
Molecular Syndromology, 2023
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
31484976 (PubMed )
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Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
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