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Impaired Function is a Common Feature of Neuropathy-Associated Glycyl-tRNA Synthetase Mutations

Griffin, L. B. et al.

Human mutation. VOL 35; NUMBER 11, ; 2014, 1363-1371 -- John Wiley & Sons, Ltd Part 11; (pages 1363-1371) -- 2014

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A Novel Deletion in SMPX Causes a Rare form of X-Linked Progressive Hearing Loss in Two Families Due to a Founder Effect

Abdelfatah, N. et al.

Human mutation. VOL 34; NUMBER 1, ; 2013, 66-69 -- John Wiley & Sons, Ltd Part 1; (pages 66-69) -- 2013

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by this Author/Contributor:

  1. Antonellis, A.
  2. Sakaguchi, R.
  3. Stockley, T.
  4. McGuigan, D.
  5. Gonzalez, M. A.

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