Varaico: Literature-Extracted Genetic Variants

Gene:MDC1
Variant:p.A213_F214delFs
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MDC1

NM_014641.3:p.A213_F214delFs

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_8

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.

Codina-Solà M et al.

Molecular Autism, 2015

25969726 (PubMed )
Supplement: 13229_2015_17_MOESM2_ESM.xlsx › Table_S2
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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."