Varaico: Literature-Extracted Genetic Variants

Gene:CHL1
Variant:p.D50N
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CHL1

NM_006614.4:p.D50N

Associated Papers

Refined variant calling pipeline on RNA-seq data of breast cancer cell lines without matched-normal samples.

Eberth S et al.

Bmc Research Notes, 2025

39955561 (PubMed )
Supplement: 13104_2025_7140_MOESM2_ESM.xlsx › cosmic_mut_bc_mut_gatk_hc_dbsnp

Multiregion exome sequencing of ovarian immature teratomas reveals 2N near-diploid genomes, paucity of somatic mutations, and extensive allelic imbalances shared across mature, immature, and disseminated components.

Heskett MB et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

31911616 (PubMed )
Supplement: NIHMS1546648-supplement-2.xlsx › Table_S2._SNV_data
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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."