Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance
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H. Prokisch | K. Claeys | R. Płoski | S. Wortmann | M. Wagner | E. Pronicka | R. Kopajtich | E. Ciara | D. Piekutowska-Abramczuk | S. L. Stenton | K. Malczyk | J. Eisen | Lea Kulterer