Global Variome shared LOVD

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Phenotype #0000311608 Individual ID 00420340 Associated disease BBS Phenotype details increased number of cells expressing the DNA damage-response markers, gH2Ax and 53BP1, and the activated mitotic checkpoint protein, pCHK2; 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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