Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.M1I
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ACTB

NM_001101.5:p.M1I

Associated Papers

5'UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia.

Marconi C et al.

Journal of Hematology & Oncology, 2017

28100250 (PubMed )
Supplement: 13045_2016_382_MOESM1_ESM.docx

Aberrant regulation of the MRP3 gene in non-small cell lung carcinoma.

Mahaffey CM et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2012

Loss-of-function mutations in Rab escort protein 1 (REP-1) affect intracellular transport in fibroblasts and monocytes of choroideremia patients.

Strunnikova NV et al.

Plos One, 2009

Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease.

Cheng JB et al.

The Journal of Clinical Endocrinology and Metabolism, 2003

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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."