JAMES LUPSKI to RNA, Small Nuclear
This is a "connection" page, showing publications JAMES LUPSKI has written about RNA, Small Nuclear.
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0.287
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Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes. Nat Genet. 2026 Apr; 58(4):761-773.
Score: 0.238
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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: 0.048