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A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings.
Li Q, Dibus M, Casey A, Yee CSK, Vargas SO, Luo S, Rosen SM, Madden JA, Genetti CA, Brabek J, Brownstein CA, Kazerounian S, Raby BA, Schmitz-Abe K, Kennedy JC, Fishman MP, Mullen MP, Taylor JM, Rosel D, Agrawal PB. Li Q, et al. Among authors: kennedy jc. PLoS Genet. 2021 Jul 7;17(7):e1009639. doi: 10.1371/journal.pgen.1009639. eCollection 2021 Jul. PLoS Genet. 2021. PMID: 34232960 Free PMC article.
157 results