Associated Papers
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Variant_summary
Folliculin variants linked to Birt-Hogg-Dubé syndrome are targeted for proteasomal degradation.
Clausen L et al.
Plos Genetics, 2020
33137092 (PubMed )
Supplement: pgen.1009187.s014.xlsx › Fig2F_S10AB
Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants.
Liu K et al.
Orphanet Journal of Rare Diseases, 2019
A novel, somatic, transforming mutation in the extracellular domain of Epidermal Growth Factor Receptor identified in myeloproliferative neoplasm.
Casolari DA et al.
Scientific Reports, 2017
28550306 (PubMed )
Supplement: 41598_2017_2655_MOESM2_ESM.xls › Combined__Use_
Next-generation sequencing in familial breast cancer patients from Lebanon.
Jalkh N et al.
Bmc Medical Genomics, 2017
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