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A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis.
J Clin Immunol. 2021 Aug;41(6):1376-1379. doi: 10.1007/s10875-021-01026-2. Epub 2021 Apr 7.
J Clin Immunol. 2021.
PMID: 33825088
Free PMC article.
Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease.
Neves JF, Afonso I, Borrego L, Martins C, Cordeiro AI, Neves C, Lacoste C, Badens C, Fabre A.
Neves JF, et al.
Eur J Med Genet. 2018 Apr;61(4):185-188. doi: 10.1016/j.ejmg.2017.11.014. Epub 2017 Nov 23.
Eur J Med Genet. 2018.
PMID: 29174094
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