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Authors: William L Macken
Journal Article
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome
Brain, Volume 148, Issue 2, February 2025, Pages 647–662, https://doi.org/10.1093/brain/awae268
Published: 30 August 2024
Journal Article
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features Get access
Brain, Volume 147, Issue 8, August 2024, Pages 2732–2744, https://doi.org/10.1093/brain/awae160
Published: 16 May 2024
Journal Article
Neuromuscular disease genetics in under-represented populations: increasing data diversity
Brain, Volume 146, Issue 12, December 2023, Pages 5098–5109, https://doi.org/10.1093/brain/awad254
Published: 30 July 2023
