STXBP3의 변이는 매우 조기 발병 염증성 장 질환, 양측 감각신경성 청력 손실 및 면역 조절 장애와 관련이 있습니다.

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1. 1Molecular Dissection of the Munc18c/Syntaxin4 Interaction: Implications for Regulation of Membrane Trafficking2006 · 133 citations
2. 2Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy2015 · 687 citations
3. 3GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene2015 · 1,590 citations
4. 4X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease2010 · 322 citations
5. 5Inflammatory Bowel Disease in CGD Reproduces the Clinicopathological Features of Crohn's Disease2008 · 219 citations