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HLA-DPA1*02:01~B1*01:01 is a risk haplotype for primary sclerosing cholangitis mediating activation of NKp44+ NK cells.
Gut. 2024 Jan 5;73(2):325-337. doi: 10.1136/gutjnl-2023-329524.
Gut. 2024.
PMID: 37788895
Free PMC article.
A BAP1 synonymous mutation results in exon skipping, loss of function and worse patient prognosis.
Niersch J, Vega-Rubín-de-Celis S, Bazarna A, Mergener S, Jendrossek V, Siveke JT, Peña-Llopis S.
Niersch J, et al.
iScience. 2021 Feb 12;24(3):102173. doi: 10.1016/j.isci.2021.102173. eCollection 2021 Mar 19.
iScience. 2021.
PMID: 33681728
Free PMC article.
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