Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.R210H
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ACTG1

NM_001614.5:p.R210H

Associated Papers

Hearing Loss in Baraitser-Winter Syndrome: Case Reports and Review of the Literature.

Ghiselli S et al.

Journal of Clinical Medicine, 2024

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S12.xls › Sheet1

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM11_ESM.xlsx › Supplementary_Data_8
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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."