Matches in SemOpenAlex for { <https://semopenalex.org/work/W4385289007> ?p ?o ?g. }
- W4385289007 endingPage "107668" @default.
- W4385289007 startingPage "107668" @default.
- W4385289007 abstract "Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is a relatively common inborn error of metabolism, but due to difficulty in accurately predicting affected status through newborn screening, molecular confirmation of the causative variants by sequencing of the ACADVL gene is necessary. Although the ACMG/AMP guidelines have helped standardize variant classification, ACADVL variant classification remains disparate due to a phenotype that can be nonspecific, the possibility of variants that produce late-onset disease, and relatively high carrier frequency, amongst other challenges. Therefore, an ACADVL-specific variant curation expert panel (VCEP) was created to facilitate the specification of the ACMG/AMP guidelines for VLCADD. We expect these guidelines to help streamline, increase concordance, and expedite the classification of ACADVL variants." @default.
- W4385289007 created "2023-07-27" @default.
- W4385289007 creator A5005922344 @default.
- W4385289007 creator A5007295584 @default.
- W4385289007 creator A5008356363 @default.
- W4385289007 creator A5011049275 @default.
- W4385289007 creator A5020762254 @default.
- W4385289007 creator A5028758097 @default.
- W4385289007 creator A5044755082 @default.
- W4385289007 creator A5052306408 @default.
- W4385289007 creator A5057599208 @default.
- W4385289007 creator A5060578139 @default.
- W4385289007 creator A5068433203 @default.
- W4385289007 creator A5069894616 @default.
- W4385289007 creator A5073905831 @default.
- W4385289007 creator A5084917476 @default.
- W4385289007 creator A5085708802 @default.
- W4385289007 creator A5086083837 @default.
- W4385289007 date "2023-11-01" @default.
- W4385289007 modified "2023-10-16" @default.
- W4385289007 title "Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation" @default.
- W4385289007 cites W1525738412 @default.
- W4385289007 cites W1644197353 @default.
- W4385289007 cites W1959892326 @default.
- W4385289007 cites W1972881249 @default.
- W4385289007 cites W1975993023 @default.
- W4385289007 cites W2003563875 @default.
- W4385289007 cites W2009482850 @default.
- W4385289007 cites W2010196348 @default.
- W4385289007 cites W2012135295 @default.
- W4385289007 cites W2013910240 @default.
- W4385289007 cites W2034691490 @default.
- W4385289007 cites W2051978340 @default.
- W4385289007 cites W2057910463 @default.
- W4385289007 cites W2063121632 @default.
- W4385289007 cites W2066630760 @default.
- W4385289007 cites W2069756743 @default.
- W4385289007 cites W2070606791 @default.
- W4385289007 cites W2073972671 @default.
- W4385289007 cites W2074307869 @default.
- W4385289007 cites W2088014281 @default.
- W4385289007 cites W2103171313 @default.
- W4385289007 cites W2105083626 @default.
- W4385289007 cites W2109835425 @default.
- W4385289007 cites W2110229712 @default.
- W4385289007 cites W2140149838 @default.
- W4385289007 cites W2147457396 @default.
- W4385289007 cites W2154866190 @default.
- W4385289007 cites W2197721327 @default.
- W4385289007 cites W2356454710 @default.
- W4385289007 cites W2373817779 @default.
- W4385289007 cites W2427011128 @default.
- W4385289007 cites W2518161914 @default.
- W4385289007 cites W2521967673 @default.
- W4385289007 cites W2585792087 @default.
- W4385289007 cites W2751445216 @default.
- W4385289007 cites W2782210658 @default.
- W4385289007 cites W2890723161 @default.
- W4385289007 cites W2896219621 @default.
- W4385289007 cites W2896396057 @default.
- W4385289007 cites W2897067527 @default.
- W4385289007 cites W2909194804 @default.
- W4385289007 cites W2938218742 @default.
- W4385289007 cites W2943716176 @default.
- W4385289007 cites W2952683165 @default.
- W4385289007 cites W2952728907 @default.
- W4385289007 cites W2990435446 @default.
- W4385289007 cites W3005785247 @default.
- W4385289007 cites W3006340694 @default.
- W4385289007 cites W3097738012 @default.
- W4385289007 cites W3123582176 @default.
- W4385289007 cites W3125415253 @default.
- W4385289007 cites W3138505755 @default.
- W4385289007 cites W3216359378 @default.
- W4385289007 cites W4210894411 @default.
- W4385289007 cites W4214480899 @default.
- W4385289007 cites W4220813572 @default.
- W4385289007 cites W4247292500 @default.
- W4385289007 cites W4309643822 @default.
- W4385289007 cites W4317681229 @default.
- W4385289007 cites W4361294676 @default.
- W4385289007 doi "https://doi.org/10.1016/j.ymgme.2023.107668" @default.
- W4385289007 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37549443" @default.
- W4385289007 hasPublicationYear "2023" @default.
- W4385289007 type Work @default.
- W4385289007 citedByCount "0" @default.
- W4385289007 crossrefType "journal-article" @default.
- W4385289007 hasAuthorship W4385289007A5005922344 @default.
- W4385289007 hasAuthorship W4385289007A5007295584 @default.
- W4385289007 hasAuthorship W4385289007A5008356363 @default.
- W4385289007 hasAuthorship W4385289007A5011049275 @default.
- W4385289007 hasAuthorship W4385289007A5020762254 @default.
- W4385289007 hasAuthorship W4385289007A5028758097 @default.
- W4385289007 hasAuthorship W4385289007A5044755082 @default.
- W4385289007 hasAuthorship W4385289007A5052306408 @default.
- W4385289007 hasAuthorship W4385289007A5057599208 @default.
- W4385289007 hasAuthorship W4385289007A5060578139 @default.
- W4385289007 hasAuthorship W4385289007A5068433203 @default.