Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.R335H
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ACTB

NM_001101.5:p.R335H

Associated Papers

Expansion of the prenatal phenotype of Baraitser-Winter syndrome: Presentation of two cases of multiple congenital anomaly syndrome.

Burrill N et al.

American Journal of Medical Genetics. Part A, 2024

Prenatal presentation and diagnosis of Baraitser-Winter syndrome using exome sequencing.

Zhang K et al.

American Journal of Medical Genetics. Part A, 2020

Circulating tumor DNA as a marker of treatment response in BRAF V600E mutated non-melanoma solid tumors.

Ahlborn LB et al.

Oncotarget, 2018

30220966 (PubMed )
Supplement: oncotarget-09-32570-s003.xlsx › Sheet1
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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."