An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Overview of attention for article published in Genetics in Medicine, November 2020

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In the top 25% of all research outputs scored by Altmetric
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twitter: 8 X users
patent: 1 patent

facebook: 1 Facebook page

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RT @GIMJournal: Should we add FAR1 to gene panels for hereditary spastic paraplegia, #cerebralpalsy, and juvenile #cataracts? https://t.co/…

Novi gen za spastičnu paraplegiju, cerebralnu paralizu i juvenilnu kataraktu -isti gen, različite manifestacije https://t.co/bfpwQrsJu1

Should we add FAR1 to gene panels for hereditary spastic paraplegia, #cerebralpalsy, and juvenile #cataracts? https://t.co/Jr7PAWmBpr #Neurology #Genetics https://t.co/SejuOphFDR

A recent collaboration with GeneDx ordering clinicians studied 12 individuals with FAR1 variants (p.Arg480Cys/His/Leu) with spastic paraparesis & juvenile/congenital cataracts. Read the full article & resulting recommendations 👉 https://t.co/PTF1…

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