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Background A new approach to estimating gene carrier rates was introduced in 2019, relying on the frequency of pathogenic/likely pathogenic (P/LP) variants from ClinVar in a large, population sequencing database (Genome ...

Tropomyosin is an actin-binding protein (ABP) which protects actin filaments from cofilin-mediated disassembly. Distinct tropomyosin isoforms have long been hypothesized to differentially sort to subcellular actin networ...

Background ADAM metallopeptidase with thrombospondin type 1 motif 3 (ADAMTS3) is one of the causative genes for the Hennekam lymphangiectasia-lymphedema syndrome (HKLLS), an autosomal recessive genetic disorder. Here, we...

Introduction People who experience Ehlers-Danlos syndrome (EDS), particularly hypermobile EDS (hEDS), face significant delays in receiving an accurate diagnosis. They also tend to be misdiagnosed due to a widespread lack...