Varaico: Literature-Extracted Genetic Variants

Gene:COL6A1
Variant:p.K310_G311Splc
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COL6A1

NM_001848.3:p.K310_G311Splc

Associated Papers

Benchmarking RNA-seq Tools for Real-World Diagnostic Applications.

Silverstein S et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

41646813 (PubMed )
Supplement: media-3.xlsx › Table_S5

Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.

Donkervoort S et al.

Human Mutation, 2015

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