Publications:

Connexin Mutations and Hereditary Diseases.

International Journal Of Molecular Sciences

Qiu, Yue Y; Zheng, Jianglin J; Chen, Sen S; Sun, Yu Y

Publication Date: 2022-04-12

Variant appearance in text: GJB1: Gly12Val

PubMed Link: 35457072

Variant Present in the following documents:

• Main text
• ijms-23-04255.pdf

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Structural studies of the N-terminus of Connexin 32 using 1H NMR spectroscopy.

Archives Of Biochemistry And Biophysics

Kalmatsky, B D BD; Bhagan, S S; Tang, Q Q; Bargiello, T A TA; Dowd, T L TL

Publication Date: 2009-10-01

Variant appearance in text: CMTX: G12V

PubMed Link: 19638273

Variant Present in the following documents:

• Main text

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Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease.

Molecular And Cellular Neurosciences

Orthmann-Murphy, Jennifer L JL; Enriquez, Alan D AD; Abrams, Charles K CK; Scherer, Steven S SS

Publication Date: 2007-04

Variant appearance in text: GJB1: G12V

PubMed Link: 17344063

Variant Present in the following documents:

• Main text

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