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Substitution impact of highly conserved arginine residue at position 75 in GJB1 gene in association with X-linked Charcot-Marie-tooth disease: A computational study.

Agrahari, Ashish Kumar; Kumar, Amit; R, Siva; Zayed, Hatem; C, George Priya Doss ( Elsevier , 2018 , Article)

X-linked Charcot-Marie-Tooth type 1 X (CMTX1) disease is a subtype of Charcot-Marie-Tooth (CMT), which is mainly caused by mutations in the GJB1 gene. It is also known as connexin 32 (Cx32) that leads to Schwann cell ...