{"_id":"t7skzvdw8fmXPzx7b","bibbaseid":"anonymous-atruncatingvariantalteringtheextremecterminalregionofdesmoplakindspsuggeststhecrucialfunctionalroleoftheregionacasereportstudytextbarbmcmedicalgenomicstextbarfulltext-2023","bibdata":{"bibtype":"misc","type":"misc","title":"A truncating variant altering the extreme C-terminal region of desmoplakin (DSP) suggests the crucial functional role of the region: a case report study \\textbar BMC Medical Genomics \\textbar Full Text","url":"https://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-023-01527-6","urldate":"2023-06-16","month":"May","year":"2023","keywords":"DDM, SG pipeline","bibtex":"@misc{noauthor_truncating_2023,\n\ttitle = {A truncating variant altering the extreme {C}-terminal region of desmoplakin ({DSP}) suggests the crucial functional role of the region: a case report study {\\textbar} {BMC} {Medical} {Genomics} {\\textbar} {Full} {Text}},\n\turl = {https://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-023-01527-6},\n\turldate = {2023-06-16},\n\tmonth = may,\n\tyear = {2023},\n\tkeywords = {DDM, SG pipeline},\n}\n\n\n\n\n\n\n\n","key":"noauthor_truncating_2023","id":"noauthor_truncating_2023","bibbaseid":"anonymous-atruncatingvariantalteringtheextremecterminalregionofdesmoplakindspsuggeststhecrucialfunctionalroleoftheregionacasereportstudytextbarbmcmedicalgenomicstextbarfulltext-2023","role":"","urls":{"Paper":"https://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-023-01527-6"},"keyword":["DDM","SG pipeline"],"metadata":{"authorlinks":{}}},"bibtype":"misc","biburl":"https://bibbase.org/zotero/SOPHiAGENETICS","dataSources":["Pcpsxmwz8uxXtL843"],"keywords":["ddm","sg pipeline"],"search_terms":["truncating","variant","altering","extreme","terminal","region","desmoplakin","dsp","suggests","crucial","functional","role","region","case","report","study","textbar","bmc","medical","genomics","textbar","full","text"],"title":"A truncating variant altering the extreme C-terminal region of desmoplakin (DSP) suggests the crucial functional role of the region: a case report study \\textbar BMC Medical Genomics \\textbar Full Text","year":2023}