doi: 10.1042/bj20061319. Marchler-Bauer, A., Bo, Y., Han, L., He, J., Lanczycki, C. Accumulator Bet – pin up e juice a bet on more than one unrelated event. (2017). CDD/SPARCLE: functional classification of proteins via subfamily domain architectures. Nucleic Acids Res.
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Taking the above into account and also considering the role of other factors on gene expression (such as epigenetic modifications and other modifying genes), the observation of diverse clinical presentations in these two siblings sharing the same variants is not surprising [23]. We report the presence of two novel variants on the HSD3B2 gene in the compound heterozygous form that likely caused the 3βHSD2 deficiency with variable expressivity in two siblings, a missense mutation on exon 4 (c.370 A>G) and an intronic mutation on intron 3 (c.308-6 G>A), whose potential pathogenetic effect were evaluated by in-silico analysis and need functional validation. Accumulator Bet – a bet pin up e juice on more than one unrelated event. This research received no external funding. Conceptualization, E.M. and S.E.; methodology, E.M., D.T. Jogos poker texas hold.
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