Three novel COLQ mutations and variation of phenotypic expressivity due to G240X

Y. A. Shapira, M. E. Sadeh, M. P. Bergtraum, A. Tsujino, K. Ohno, X. M. Shen, J. Brengman, S. Edwardson, I. Matoth, A. G. Engel

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Medicine & Life Sciences