Varaico: Literature-Extracted Genetic Variants

Gene:CCDC183
Variant:p.W342*
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CCDC183

NM_001039374.5:p.W342*

Associated Papers

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants

Exome-wide rare variant analysis in familial essential tremor.

Diez-Fairen M et al.

Parkinsonism & Related Disorders, 2021

Longitudinal copy number, whole exome and targeted deep sequencing of 'good risk' IGHV-mutated CLL patients with progressive disease.

Rose-Zerilli MJ et al.

Leukemia, 2016

26847028 (PubMed )
Supplement: leu201610x6.xls › 2015_RoseZerilli_WES_in_IGHVmut
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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."