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Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism.
J Hum Genet. 2015 Jan;60(1):27-34. doi: 10.1038/jhg.2014.97. Epub 2014 Nov 13.
J Hum Genet. 2015.
PMID: 25391606
Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease.
Ganaha A, Kaname T, Shinjou A, Chinen Y, Yanagi K, Higa T, Kondo S, Suzuki M.
Ganaha A, et al. Among authors: shinjou a.
Am J Med Genet A. 2017 Oct;173(10):2826-2830. doi: 10.1002/ajmg.a.38411. Epub 2017 Aug 16.
Am J Med Genet A. 2017.
PMID: 28815995
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