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Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.

Brain : a journal of neurology - 5 Jul 2024

Distelmaier Felix, Sezer Abdullah, Helm Christina, Waldmüller Stephan, Seibt Annette, Gangfuß Andrea, Kölbel Heike, Schara-Schmidt Ulrike, Yuksel Deniz, Talim Beril, Mayatepek Ertan, Nikolin Stefan, Weis Joachim, Roos Andreas, Haack Tobias B

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PMID: 38637313
DOI: 10.1093/brain/awae099

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