Varaico: Literature-Extracted Genetic Variants

Gene:ABCC6
Variant:p.V1298I
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ABCC6

NM_001171.6:p.V1298I

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

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_3

Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management.

Mattassi R et al.

Journal of Vascular Surgery, 2018

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