A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity

Overview of attention for article published in Brain, June 2024

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ER calcium signaling in axon disease https://t.co/GFs3VVmT2W

RT @FranMartinezGr: A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity in 33 affected individuals from 9 unrelated families, strengthening the gene-disease relationship. #RareDisease #Genetics #morbidge…

A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity in 33 affected individuals from 9 unrelated families, strengthening the gene-disease relationship. #RareDisease #Genetics #morbidgene https://t.co/c1SI…

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