Instituto de Biomedicina y Genética Molecular de Valladolid

Incidence, prevalence, and ketoacidosis at onset of type 1 diabetes in Spain: a systematic review and critical assessment of the available evidence

The incidence, prevalence and onset of type 1 diabetes (T1D) with diabetic ketoacidosis (DKA) in Spain remain insufficiently characterized, despite multiple regional analyses. This study aims to summarize and critically assess epidemiologic data in Spain, incorporating insights f...

Evidence-based recommendations for application of construct-based splicing data in clinical variant classification

<title>Abstract</title> Background: Minigene RT-PCR assays are widely used to assess variant impact on splicing, with increasing reports of massively parallel splicing assays (MPSAs) demonstrating potential to upscale diagnostic use of construct-based data. This study conducted a...