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High frequency of pathogenic and rare sequence variants in diabetes-related genes among Russian patients with diabetes in pregnancy.
- Published in:
- Acta Diabetologica, 2019, v. 56, n. 4, p. 413, doi. 10.1007/s00592-018-01282-6
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- Article
High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism.
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- PLoS ONE, 2018, v. 13, n. 9, p. 1, doi. 10.1371/journal.pone.0204323
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- Article
High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians.
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- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1146768
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- Article
Minigene splicing assessment of 20 novel synonymous and intronic glucokinase gene variants identified in patients with maturity‐onset diabetes of the young.
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- Human Mutation, 2020, v. 41, n. 1, p. 129, doi. 10.1002/humu.23919
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- Article