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Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.
PLoS One. 2014 Jan 28;9(1):e86836. doi: 10.1371/journal.pone.0086836. eCollection 2014.
PLoS One. 2014.
PMID: 24489791
Free PMC article.
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
Schmidts M, Vodopiutz J, Christou-Savina S, Cortés CR, McInerney-Leo AM, Emes RD, Arts HH, Tüysüz B, D'Silva J, Leo PJ, Giles TC, Oud MM, Harris JA, Koopmans M, Marshall M, Elçioglu N, Kuechler A, Bockenhauer D, Moore AT, Wilson LC, Janecke AR, Hurles ME, Emmet W, Gardiner B, Streubel B, Dopita B, Zankl A, Kayserili H, Scambler PJ, Brown MA, Beales PL, Wicking C; UK10K; Duncan EL, Mitchison HM.
Schmidts M, et al. Among authors: dopita b.
Am J Hum Genet. 2013 Nov 7;93(5):932-44. doi: 10.1016/j.ajhg.2013.10.003. Epub 2013 Oct 31.
Am J Hum Genet. 2013.
PMID: 24183451
Free PMC article.
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Bilateral subdural hygromas and cephalhaematomas in male twins with severe myotubular myopathy caused by a Novel c.431delT (p.Leu144fs) mutation in MTM1 gene.
Chaudhari T, Todd DA, Kent AL, Dopita B, Hallam L, Freckmann ML, Johnston HM.
Chaudhari T, et al. Among authors: dopita b.
J Paediatr Child Health. 2011 Jan;47(1-2):64-5. doi: 10.1111/j.1440-1754.2010.01737.x.
J Paediatr Child Health. 2011.
PMID: 20500434
No abstract available.
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