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BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype.
Mol Genet Genomic Med. 2021 Mar;9(3):e1594. doi: 10.1002/mgg3.1594. Epub 2021 Jan 24.
Mol Genet Genomic Med. 2021.
PMID: 33486847
Free PMC article.
Compound Haplotype Variants in CFH and CD46 Genes Determine Clinical Outcome of Atypical Hemolytic Uremic Syndrome (aHUS)-A Series of Cases from a Single Family.
Furmańczyk-Zawiska A, Kubiak-Dydo A, Użarowska-Gąska E, Kotlarek-Łysakowska M, Salata K, Kolanowska M, Świerniak M, Gaj P, Leszczyńska B, Daniel M, Jażdżewski K, Durlik M, Wójcicka A.
Furmańczyk-Zawiska A, et al. Among authors: uzarowska gaska e.
J Pers Med. 2021 Apr 15;11(4):304. doi: 10.3390/jpm11040304.
J Pers Med. 2021.
PMID: 33920896
Free PMC article.
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