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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GJB2

Variant:p.F146L

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GJB2

NM_004004.6:p.F146L

hg38:chr13:20189144 G>C

Associated Papers

Mutational landscape of inflammatory breast cancer.

Bertucci F et al.

Journal of Translational Medicine, 2024

38637846 (PubMed )

Supplement: 12967_2024_5198_MOESM3_ESM.xlsx › Table_S3

Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.

Mao L et al.

Biology, 2023

37106706 (PubMed )

Supplement: biology-12-00505-s001.zip › biology-2074814-supplementary.xlsx › Table_S1

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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."