| 1 | DHMN7A, SLC5A7
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| Defective presynaptic choline transport underlies hereditary motor neuropathy.
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| Barwick KE, Wright J, Al-Turki S, McEntagart MM, Nair A, Chioza B, Al-Memar A, Modarres H, Reilly MM, Dick KJ, Ruggiero AM, Blakely RD, Hurles ME, Crosby AH.
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| Am J Hum Genet 91(6):1103-7. doi: 10.1016/j.ajhg.2012.09.019. Epub 2012 Nov 8.
2012
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| 2 | CMT2C, DHMN7A
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| Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14.
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| McEntagart M, Norton N, Williams H, Teare MD, Dunstan M, Baker P, Houlden H, Reilly M, Wood N, Harper PS, Futreal PA, Williams N, Rahman N.
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| Am J Hum Genet 68(5):1270-6. Epub 2001 Apr 4. 2001
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| 3 | DHMN7A
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| Distal spinal muscular atrophy with vocal cord paralysis.
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| Pridmore C, Baraitser M, Brett EM, Harding AE.
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| J Med Genet 29(3):197-9. 1992
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