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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jan 24, 2025. (Total: 235644Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Sting-associated Vasculopathy With Onset In Infancy[original query]
Tofacitinib relieves symptoms of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173.
The Journal of allergy and clinical immunology 2017 1 139 (4): 1396-1399.e12.
Seo Jieun, Kang Jung-Ah, Suh Dong In, Park Eun-Byeol, Lee Cho-Rong, Choi Sun Ah, Kim Soo Yeon, Kim Yeji, Park Sang-Heon, Ye Michael, Kwon Soon-Hak, Park June Dong, Lim Byung Chan, Lee Dong Hun, Kang Suk-Jo, Choi Murim, Park Sung-Gyoo, Chae Jong-H
Mosaic TMEM137 gene mutation R284S leading to STING-associated vasculopathy with onset in infancy (SAVI).
International journal of dermatology 2024 8 .
Zhou Yang, Zhimiao Lin, Bin Zha
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