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The phenotypic spectrum of PTCD3 deficiency.
Lace B, Faqeih E, Kaya N, Krumina Z, Mayr JA, Micule I, Wright NT, Achleitner MT, AlQudairy H, Pajusalu S, Stavusis J, Zayakin P, Inashkina I. Lace B, et al. Among authors: zayakin p. JIMD Rep. 2024 May 27;65(5):297-304. doi: 10.1002/jmd2.12424. eCollection 2024 Sep. JIMD Rep. 2024. PMID: 39544688 Free PMC article.
CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.
Mroczek M, Inashkina I, Stavusis J, Zayakin P, Khrunin A, Micule I, Kenina V, Zdanovica A, Zídková J, Fajkusová L, Limborska S, van der Kooi AJ, Brusse E, Leonardis L, Maver A, Pajusalu S, Õunap K, Puusepp S, Dobosz P, Sypniewski M, Burnyte B, Lace B. Mroczek M, et al. Among authors: zayakin p. Hum Mutat. 2022 Oct;43(10):1347-1353. doi: 10.1002/humu.24421. Epub 2022 Jun 22. Hum Mutat. 2022. PMID: 35731190
31 results