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Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs
D’Souza EN., Blakes AJM., Paluch R., Banka S., Chopra M., Coffey AJ., Depienne C., Galej WP., Mazoyer S., Nava C., O’Donnell Luria A., O’Toole J., Riestra Crespo P., Rivolta C., Sanders S., Whiffin N.
DOI
10.64898/2026.08.03.26359558
Type
Preprint
Publication Date
2026-08-04T00:00:00+00:00