Pathogenic/Likely pathogenic variants identified in controls.

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posted on 2024-09-19, 17:29 authored by Ludmila Voložonoka, Līvija Bārdiņa, Anna Kornete, Zita Krūmiņa, Dmitrijs Rots, Meilė Minkauskienė, Adele Rota, Zita Strelcoviene, Baiba Vilne, Inga Kempa, Anna Miskova, Linda Gailīte, Dace Rezeberga

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variants may contribute statistically significant prevalence remain largely unknown rare damaging variants progesterone receptor (<phenotypic data obtained pathway enrichment analysis opening new perspectives glucocorticoid receptor (<connective tissue pathway connective tissue dysfunction connective tissue disorders receptors ’ affinity intricate molecular pathways identify genes associated pathways associated related pathways genes associated ci ’xlink ">wide perspective two patients syndromic patients six patients short cervix sequenced exomes priori hypotheses previous pregnancies preterm birth potentially disrupting pgr patient could nr3c1 multifactorial nature mendelian fashion known link internal database incorporating beighton important contributors genetic landscape genetic factors extracellular matrix cumulative effect conducted using cervical insufficiency burden tests brighton scores 588 ),114 patients 06 ).

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Pathogenic/Likely pathogenic variants identified in controls.

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