Varaico: Literature-Extracted Genetic Variants

Gene:COL6A3
Variant:p.P2070_G2071Splc
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COL6A3

NM_004369.4:p.P2070_G2071Splc

Associated Papers

Keratosis pilaris in collagen type VI-related disorders.

Ritter AM et al.

Pediatric Dermatology, 2022

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders.

D'Amico A et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2017

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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."