Reported cases with <i>LEP</i> mutations.
journal contribution
posted on 2022-09-19, 17:30 authored by Luisa Sophie Rajcsanyi, Yiran Zheng, Pamela Fischer-Posovszky, Martin Wabitsch, Johannes Hebebrand, Anke Hinney<p>This represents all clinical cases reported with either obesity and/or congenital leptin deficiency carrying a <i>LEP</i> variant. Not all reported variants were listed in gnomAD. NA: not available.</p> <p>(PDF)</p>
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- 1. DOI - Is supplement to Prevalence estimates of putatively pathogenic leptin variants in the gnomAD database
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predicting functional implicationsexome aggregation consortiumfunctionally relevant variantsdeleterious leptin variantfunction leptin variantsputatively pathogenic variantsleptin gene leadsleast two toolsgeneral population usingdiv >< ppathogenic leptin variantspathogenic variantsleptin genegeneral populationleptin mutationspathogenic predictionstudy emphasisessilico </present studymonogenic formlow frequencylike siftgreater riskfindings utilizingeast asiadatabase reportedconsanguineous families7 loss68 non
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