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PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Magyar CL, Murdock DR, Burrage LC, Dai H, Lalani SR, Lewis RA, Lin Y, Astudillo MF, Rosenfeld JA, Tran AA, Gibson JB; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao HT. Magyar CL, et al. Among authors: astudillo mf. Am J Med Genet A. 2022 Jun;188(6):1868-1874. doi: 10.1002/ajmg.a.62704. Epub 2022 Feb 23. Am J Med Genet A. 2022. PMID: 35194938 Review.
LCA Capability Roadmap: Product System Model Description and Revision.
Kuczenski B, Marvuglia A, Astudillo MF, Ingwersen WW, Satterfield MB, Evers DP, Koffler C, Navarrete T, Amor B, Laurin L. Kuczenski B, et al. Among authors: astudillo mf. Int J Life Cycle Assess. 2018;23(8):1685-1692. doi: 10.1007/s11367-018-1446-8. Int J Life Cycle Assess. 2018. PMID: 31178630 Free PMC article.