ITGB2, integrin subunit beta 2, 3689

N. diseases: 340; N. variants: 31
Disease: Leukocyte Adhesion Deficiency Type 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4743661
Disease: Leukocyte Adhesion Deficiency Type 3
Leukocyte Adhesion Deficiency Type 3 		0.010 GeneticVariation disease BEFREE We report four patients with two new unpublished mutations: two LAD-I patients with c.1099delG in ITGB2 and two LAD-III patients with c.1069C>T in FERMT3. 30412664 2019