Publications:

Splice Site Variants in the KCNQ1 and SCN5A Genes: Transcript Analysis as a Tool in Supporting Pathogenicity.

Journal Of Clinical Medicine Research

Leong, Ivone U S IUS; Dryland, Philippa A PA; Prosser, Debra O DO; Lai, Stella W-S SW; Graham, Mandy M; Stiles, Martin M; Crawford, Jackie J; Skinner, Jonathan R JR; Love, Donald R DR

Publication Date: 2017-08

Variant appearance in text: KCNQ1: 782A>C

PubMed Link: 28725320

Variant Present in the following documents:

• Main text
• jocmr-09-709.pdf

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Allosteric features of KCNQ1 gating revealed by alanine scanning mutagenesis.

Biophysical Journal

Ma, Li-Juan LJ; Ohmert, Iris I; Vardanyan, Vitya V

Publication Date: 2011-02-16

Variant appearance in text: KCNQ1: E261A

PubMed Link: 21320432

Variant Present in the following documents:

• Main text

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Voltage-dependent C-type inactivation in a constitutively open K+ channel.

Biophysical Journal

Panaghie, Gianina G; Purtell, Kerry K; Tai, Kwok-Keung KK; Abbott, Geoffrey W GW

Publication Date: 2008-09-15

Variant appearance in text: KCNQ1: E261A

PubMed Link: 18567635

Variant Present in the following documents:

• Main text

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The role of S4 charges in voltage-dependent and voltage-independent KCNQ1 potassium channel complexes.

The Journal Of General Physiology

Panaghie, Gianina G; Abbott, Geoffrey W GW

Publication Date: 2007-02

Variant appearance in text: KCNQ1: E261A

PubMed Link: 17227916

Variant Present in the following documents:

• Main text
• jgp1290121.pdf

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