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A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome.
Skalníková M, Staňo Kozubík K, Trizuljak J, Vrzalová Z, Radová L, Réblová K, Holbová R, Kurucová T, Svozilová H, Štika J, Blaháková I, Dvořáčková B, Prudková M, Stehlíková O, Šmída M, Křen L, Smejkal P, Pospíšilová Š, Doubek M. Skalníková M, et al. Among authors: svozilova h. Int J Mol Sci. 2022 Jan 14;23(2):885. doi: 10.3390/ijms23020885. Int J Mol Sci. 2022. PMID: 35055070 Free PMC article.
A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia.
Doubková M, Staňo Kozubík K, Radová L, Pešová M, Trizuljak J, Pál K, Svobodová K, Réblová K, Svozilová H, Vrzalová Z, Pospíšilová Š, Doubek M. Doubková M, et al. Among authors: svozilova h. Hum Genome Var. 2019 Mar 5;6:12. doi: 10.1038/s41439-019-0044-z. eCollection 2019. Hum Genome Var. 2019. PMID: 30854216 Free PMC article.