Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.V129Splc
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KCNQ1

NM_000218.3:p.V129Splc

Associated Papers

Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome.

Eßinger C et al.

Clinical Epigenetics, 2020

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus.

Valente FM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."