JAMES LUPSKI to Protein Structure, Secondary
This is a "connection" page, showing publications JAMES LUPSKI has written about Protein Structure, Secondary.
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Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis. Am J Hum Genet. 2023 04 06; 110(4):663-680.
Score: 0.053
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Charcot-Marie-Tooth disease: lessons in genetic mechanisms. Mol Med. 1998 Jan; 4(1):3-11.
Score: 0.037
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Molecular basis of Charcot-Marie-Tooth disease type 1A: gene dosage as a novel mechanism for a common autosomal dominant condition. Am J Med Sci. 1993 Sep; 306(3):177-84.
Score: 0.028