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A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations.
Am J Respir Crit Care Med. 1997 Jun;155(6):1914-20. doi: 10.1164/ajrccm.155.6.9196095.
Am J Respir Crit Care Med. 1997.
PMID: 9196095
Screening of CFTR mutations in an isolated population: identification of carriers and patients.
Chiba-Falek O, Nissim-Rafinia M, Argaman Z, Genem A, Moran I, Kerem E, Kerem B.
Chiba-Falek O, et al. Among authors: genem a.
Eur J Hum Genet. 1998 Mar-Apr;6(2):181-4. doi: 10.1038/sj.ejhg.5200174.
Eur J Hum Genet. 1998.
PMID: 9781064
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A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12.
Lossos A, Baala L, Soffer D, Averbuch-Heller L, Dotan S, Munnich A, Lyonnet S, Gomori JM, Genem A, Neufeld M, Abramsky O, Zlotogora J, Argov Z.
Lossos A, et al. Among authors: genem a.
Brain. 2005 Jan;128(Pt 1):42-51. doi: 10.1093/brain/awh338. Epub 2004 Nov 17.
Brain. 2005.
PMID: 15548556
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