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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL6A2

Variant:p.P357delFs

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COL6A2

NM_001849.4:p.P357delFs

hg38:chr21:46117887 AC>A

Associated Papers

Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management.

Fraser KL et al.

Erj Open Research, 2017

28660205 (PubMed )

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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."