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GJB1 c.34_35delinsTA ;(p.G12Y)
Variant ID: X-70443591-GG-TA
NM_000166.5(
GJB1
):c.34_35delinsTA;(p.G12Y)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
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dbSNP
Publications:
The Complex and Critical Role of Glycine 12 (G12) in Beta-Connexins of Human Skin.
International Journal Of Molecular Sciences
Bailey, Rasheed A RA; Beahm, Derek L DL; Skerrett, I Martha IM
Publication Date: 2021-03-05
Variant appearance in text: CMTX: G12Y
PubMed Link:
33807656
Variant Present in the following documents:
Main text
ijms-22-02615.pdf
View BVdb publication page
Structural studies of N-terminal mutants of connexin 32 using (1)H NMR spectroscopy.
Archives Of Biochemistry And Biophysics
Kalmatsky, B D BD; Batir, Y Y; Bargiello, T A TA; Dowd, T L TL
Publication Date: 2012-10-01
Variant appearance in text: CMTX: G12Y
PubMed Link:
22705201
Variant Present in the following documents:
Main text
View BVdb publication page
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: G12Y
PubMed Link:
19638273
Variant Present in the following documents:
Main text
View BVdb publication page