Global Variome shared LOVD

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Phenotype #0000311607 Individual ID 00420339 Associated disease BBS Phenotype details significantly upregulated genes in RSs included markers of mitotic spindle checkpoint and regulation of microtubule cytoskeleton organization, suggesting possible genomic instability during mitosis; downregulation of genes involved in extracellular matrix organization and tube development, presence of very large nuclei also gH2Ax and pCHK2-positive - possible arrest in the G2/M phase of the cell cycle Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Bardet-Biedl syndrome (BBS) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-11-01 11:33:46 +01:00 (CET) Date last edited N/A

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