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1.
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
Am J Hum Genet
; 93(5): 932-44, 2013 Nov 07.
Article
in English
| MEDLINE | ID: mdl-24183451
2.
Bilateral subdural hygromas and cephalhaematomas in male twins with severe myotubular myopathy caused by a Novel c.431delT (p.Leu144fs) mutation in MTM1 gene.
J Paediatr Child Health
; 47(1-2): 64-5, 2011 Jan.
Article
in English
| MEDLINE | ID: mdl-20500434
3.
Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.
PLoS One
; 9(1): e86836, 2014.
Article
in English
| MEDLINE | ID: mdl-24489791
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