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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNH2

Variant:p.R1033_V1038delFs

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KCNH2

NM_000238.4:p.R1033_V1038delFs

hg38:chr7:150947367 ACGTCGCCCCGGGGC>A

Associated Papers

KCNH2 mutation c.3099_3112del causes congenital long QT syndrome type 2 with gender differences.

Ke Z et al.

Clinics (sao Paulo, Brazil), 2023

37783170 (PubMed )

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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."