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10.1007/s10545-018-0146-7 http://scihub22266oqcxt.onion/10.1007/s10545-018-0146-7 C5959958!5959958!29445992     free     free     free Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       J+Inherit+Metab+Dis 2018 ; 41 (3): 297-307 Nephropedia Template TP {{tp|p=29445992|t=2018. The functional genomics laboratory: functional validation of genetic variants |pdf=|usr=}}{{29445992}} gab.com Text The functional genomics laboratory: functional validation of genetic variants JO: J Inherit Metab Dis http://www.kidney.de/pget.php?&tw=1&pmid=29445992 #FOAvip Currently, one of the main challenges in human molecular genetics is the interpretation of rare genetic variants of unknown clinical significance. A conclusive diagnosis is of importance for the patient to obtain certainty about the cause of the disease, for the clinician to be able to provide optimal care to the patient and to predict the disease course, and for the clinical geneticist for genetic counseling of the patient and family members. Conclusive evidence for pathogenicity of genetic variants is therefore crucial. This review gives an introduction to the problem of the interpretation of genetic variants of unknown clinical significance in view of the recent advances in genetic screening, and gives an overview of the possibilities for functional tests that can be performed to answer questions about the function of genes and the functional consequences of genetic variants (?functional genomics?) in the field of inborn errors of metabolism (IEM), including several examples of functional genomics studies of mitochondrial disorders and several other IEM. Twit Text FOAVip The functional genomics laboratory: functional validation of genetic variants ????J Inherit Metab Dis http://www.kidney.de/pget.php?&tw=1&pmid=29445992 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=29445992 #FOAvip English Wikipedia <ref>{{Cite pmid|29445992}}</ref> The functional genomics laboratory: functional validation of genetic variants #MMPMID29445992 Rodenburg RJ J Inherit Metab Dis 2018[]; 41 (3): 297-307 PMID29445992show ga Currently, one of the main challenges in human molecular genetics is the interpretation of rare genetic variants of unknown clinical significance. A conclusive diagnosis is of importance for the patient to obtain certainty about the cause of the disease, for the clinician to be able to provide optimal care to the patient and to predict the disease course, and for the clinical geneticist for genetic counseling of the patient and family members. Conclusive evidence for pathogenicity of genetic variants is therefore crucial. This review gives an introduction to the problem of the interpretation of genetic variants of unknown clinical significance in view of the recent advances in genetic screening, and gives an overview of the possibilities for functional tests that can be performed to answer questions about the function of genes and the functional consequences of genetic variants (?functional genomics?) in the field of inborn errors of metabolism (IEM), including several examples of functional genomics studies of mitochondrial disorders and several other IEM. äThe functional genomics laboratory: functional validation of genetic v(epmc).pdf DeepDyve Pubget Overpricing