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TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular AtrophyAmerican Journal of Human Genetics, 2006, 99 (4), pp.974 - 983. ⟨10.1016/j.ajhg.2016.08.006⟩
Journal articles
hal-01463875v1
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Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome.European Journal of Human Genetics, 2012, 20 (2), ⟨10.1038/ejhg.2011.158⟩
Journal articles
inserm-00622156v1
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