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Year | Number of Results |
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1979 | 1 |
2013 | 1 |
2024 | 0 |
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A spinocerebellar degeneration with X-linked inheritance.
Brain. 1979 Mar;102(1):27-41. doi: 10.1093/brain/102.1.27.
Brain. 1979.
PMID: 427531
Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).
Caramins M, Colebatch JG, Bainbridge MN, Scherer SS, Abrams CK, Hackett EL, Freidin MM, Jhangiani SN, Wang M, Wu Y, Muzny DM, Lindeman R, Gibbs RA.
Caramins M, et al.
Hum Mol Genet. 2013 Nov 1;22(21):4329-38. doi: 10.1093/hmg/ddt282. Epub 2013 Jun 16.
Hum Mol Genet. 2013.
PMID: 23773993
Free PMC article.
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