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Abbreviation : MLPA
Long Form : multiplex ligation probe assay
No. Year Title Co-occurring Abbreviation
2022 Myeloma Genome Project Panel is a Comprehensive Targeted Genomics Panel for Molecular Profiling of Patients with Multiple Myeloma. CNA, ddPCR, VAF, WGS
2021 Retinal Features of Family Members With Familial Exudative Vitreoretinopathy Caused By Mutations in KIF11 Gene. CGH, FEVR, RDs
2019 Prognostic gene alterations and clonal changes in childhood B-ALL. B-ALL, CNAs
2017 Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients. HSP
2016 Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations. ---
2015 Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure. DMRT1, NOA
2014 Chronic renal failure of unknown origin is caused by HNF1B mutations in 9% of adult patients: a single centre cohort analysis. RSA
2008 Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts. EC, HNPCC