Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.C289C
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SMN1

NM_000344.4:p.C289C

Associated Papers

Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.

Moles-Fernández A et al.

Cancers, 2021

34283047 (PubMed )
Supplement: cancers-13-03341-s001.zip › 2_Supplementary_table_S2A_2B.xlsx › Suppl_Table_2A

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens.

Sugarman EA et al.

European Journal of Human Genetics : Ejhg, 2012

Regulation of SMN protein stability.

Burnett BG et al.

Molecular and Cellular Biology, 2009

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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."