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bibliographicCitation Shapira YA, Sadeh ME, Bergtraum MP, Tsujino A, Ohno K, Shen XM, Brengman J, Edwardson S, Matoth I, Engel AG. Three novel COLQ mutations and variation of phenotypic expressivity due to G240X. Neurology. 2002 Feb 26;58(4):603–9. doi: 10.1212/wnl.58.4.603. PMID: 11865139.
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title Three novel COLQ mutations and variation of phenotypic expressivity due to G240X
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