536PFalse-positive results in 5q-SMA newborn screening: SMN1 VUS studies in zebrafish support therapeutic decision.

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Title: 536PFalse-positive results in 5q-SMA newborn screening: SMN1 VUS studies in zebrafish support therapeutic decision.
Authors: Kölbel, H.1 (AUTHOR), Wirth, B.2,3,4 (AUTHOR), Stringer, B.5 (AUTHOR), Zhang, Y.5 (AUTHOR), Taghipour-Sheshdeh, A.5 (AUTHOR), Zetzsche, S.2,3 (AUTHOR), Piano, V.2,3 (AUTHOR), Fuhrmann, N.2,3 (AUTHOR), Becker, J.2,3 (AUTHOR), Karakaya, M.2,3,4 (AUTHOR), Goh, S.6 (AUTHOR), Giacomotto, J.5,7 (AUTHOR), Farrar, M.6,8 (AUTHOR)
Source: Neuromuscular Disorders. 2025 Supplement, Vol. 53, pN.PAG-N.PAG. 1p.
Database: Academic Search Ultimate
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An: 193863064
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  Data: 536PFalse-positive results in 5q-SMA newborn screening: SMN1 VUS studies in zebrafish support therapeutic decision.
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        Value: 10.1016/j.nmd.2025.105625
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        Text: English
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              Text: 2025 Supplement
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