ATR, ATR serine/threonine kinase, 545

N. diseases: 321; N. variants: 38
Disease: Hemoglobin H Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease 		0.010 GeneticVariation disease BEFREE Here, we report on two brothers with the ATR-X phenotype without HbH disease; both had a mutation in the 5' upstream region of the ADD domain of the ATRX gene. 16376512 2006