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Spectrum of FAR1 (fatty Acyl‐CoA Reductase 1) Variants and Related Neurological Conditions

Ana Westenberger, Adriana Ruiz-Herrera,Sevcan Bozdogan,Atil Bisgin,Mohammed Almuqbil,Amal Alhashem,Talal Alanzi,Antonio Romito,Arndt Rolfs,Patricia Dias,Raquel Gouveia Silva,Aida M. Bertoli-Avella,Peter Bauer,Christian Beetz

MOVEMENT DISORDERS（2023）

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Key words
FAR1,spastic paraparesis,seizures,cataracts,de novo variants,plasmalogen
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