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Biallelic PTPMT1 variants disrupt cardiolipin metabolism ... | ResearchHub

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10.1093/brain/awae268

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Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.

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Micol Falabella

Micol Falabella•Chiara Pizzamiglio•Robert Pitceathly

Published

August 30, 2024

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DOI

10.1093/brain/awae268