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Literature for OMIM 118300: CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS
Xenbase Articles:
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Association of the Recurrent ATP1 A1 Variant p.Gly549Arg With Intermediate CMT and Loss of Na,K-ATPase Function.,
Spontarelli Fruit K,Olivera JF,Colmano N,Bird SJ,McCray BA,Yano ST,Scherer SS,Artigas P,
Neurol Genet. October 30, 2025; 11(5):2376-7839.
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