Varaico: Literature-Extracted Genetic Variants

Gene:MDC1
Variant:p.K1304E
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MDC1

NM_014641.3:p.K1304E

Associated Papers

Comprehensive Molecular Profiling of Colorectal Cancer With Situs Inversus Totalis by Next-Generation Sequencing.

Li H et al.

Frontiers in Oncology, 2022

Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Li Y et al.

Frontiers in Oncology, 2022

36387164 (PubMed )
Supplement: Table_2.xlsx › genaration_II_somatic

Retinoblastoma from human stem cell-derived retinal organoids.

Norrie JL et al.

Nature Communications, 2021

34315877 (PubMed )
Supplement: 41467_2021_24781_MOESM7_ESM.xlsx › WGS_retinoblastoma
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