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Estimated prevalence of hetero- and homozygous as well as compound heterozygous variants across all populations.

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posted on 2022-09-19, 17:30 authored by Luisa Sophie Rajcsanyi, Yiran Zheng, Pamela Fischer-Posovszky, Martin Wabitsch, Johannes Hebebrand, Anke Hinney

Estimated prevalence of hetero- and homozygous as well as compound heterozygous variants across all populations.

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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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