Publications:

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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: Gly12Arg

PubMed Link: 35457072

Variant Present in the following documents:

• Main text
• ijms-23-04255.pdf

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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: G12R

PubMed Link: 33807656

Variant Present in the following documents:

• ijms-22-02615.pdf

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The syndromic deafness mutation G12R impairs fast and slow gating in Cx26 hemichannels.

The Journal Of General Physiology

García, Isaac E IE; Villanelo, Felipe F; Contreras, Gustavo F GF; Pupo, Amaury A; Pinto, Bernardo I BI; Contreras, Jorge E JE; Pérez-Acle, Tomás T; Alvarez, Osvaldo O; Latorre, Ramon R; Martínez, Agustín D AD; González, Carlos C

Publication Date: 2018-05-07

Variant appearance in text: GJB1: G12R

PubMed Link: 29643172

Variant Present in the following documents:

• Main text
• JGP_201711782.pdf

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Structural studies of N-terminal mutants of Connexin 26 and Connexin 32 using (1)H NMR spectroscopy.

Archives Of Biochemistry And Biophysics

Batir, Yuksel Y; Bargiello, Thaddeus A TA; Dowd, Terry L TL

Publication Date: 2016-10-15

Variant appearance in text: CMTX: G12R

PubMed Link: 27378082

Variant Present in the following documents:

• Main text

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Connexinopathies: a structural and functional glimpse.

Bmc Cell Biology

García, Isaac E IE; Prado, Pavel P; Pupo, Amaury A; Jara, Oscar O; Rojas-Gómez, Diana D; Mujica, Paula P; Flores-Muñoz, Carolina C; González-Casanova, Jorge J; Soto-Riveros, Carolina C; Pinto, Bernardo I BI; Retamal, Mauricio A MA; González, Carlos C; Martínez, Agustín D AD

Publication Date: 2016-05-24

Variant appearance in text: CMTX: G12R

PubMed Link: 27228968

Variant Present in the following documents:

• Main text

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Structural basis for the selective permeability of channels made of communicating junction proteins.

Biochimica Et Biophysica Acta

Ek-Vitorin, Jose F JF; Burt, Janis M JM

Publication Date: 2013-01

Variant appearance in text: CX32: G12R

PubMed Link: 22342665

Variant Present in the following documents:

• Main text

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