Varaico: Literature-Extracted Genetic Variants

Gene:ECT2L
Variant:p.V570A
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ECT2L

NM_001077706.3:p.V570A

Associated Papers

Whole-genome sequencing of multiple related individuals with type 2 diabetes reveals an atypical likely pathogenic mutation in the PAX6 gene.

Boehm BO et al.

European Journal of Human Genetics : Ejhg, 2023

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL et al.

Plos One, 2014

24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S1
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