Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy
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M. Schuelke | E. Knierim | J. Senderek | F. Norwood | H. Jungbluth | U. Schara | C. Deshpande | K. von Au | G. Schottmann | Esther Gill | Franziska Seifert | S. Morales Gonzalez