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Authors: Deniz Yuksel
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Journal Article
Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia Free
Felix Distelmaier and others
Brain, Volume 147, Issue 7, July 2024, Pages e45–e49, https://doi.org/10.1093/brain/awae099
Published: 18 April 2024
Journal Article
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis
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Maria Kousi and others
Brain, Volume 132, Issue 3, March 2009, Pages 810–819, https://doi.org/10.1093/brain/awn366
Published: 05 February 2009
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