Varaico: Literature-Extracted Genetic Variants

Gene:COL6A2
Variant:p.E846K
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COL6A2

NM_001849.4:p.E846K

Associated Papers

Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.

Fortunato F et al.

Biomolecules, 2025

41154655 (PubMed )
Supplement: biomolecules-15-01426-s001.zip › biomolecules-3788021-supplementary.pdf

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL21__PON_in_red_
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