Varaico: Literature-Extracted Genetic Variants

Gene:MYOF
Variant:p.S1233T
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MYOF

NM_013451.4:p.S1233T

Associated Papers

Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Aguiar T et al.

Frontiers in Genetics, 2022

35495172 (PubMed )
Supplement: DataSheet1.xlsx › Supp_table_3

In silico functional and structural characterisation of ferlin proteins by mapping disease-causing mutations and evolutionary information onto three-dimensional models of their C2 domains.

Jiménez JL et al.

Journal of the Neurological Sciences, 2007

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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."