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Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome

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https://hal.univ-lorraine.fr/hal-01706687
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Submitted on : Monday, February 12, 2018 - 10:59:41 AM
Last modification on : Tuesday, October 19, 2021 - 10:59:05 PM

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Caroline Lacoste, B. Leheup, I. Agouti, D. Mowat, F. Giuliano, et al.. Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome. Clinical Genetics, Wiley, 2014, 86 (5), pp.502 - 503. ⟨10.1111/cge.12319⟩. ⟨hal-01706687⟩

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