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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL9A3

Variant:p.G130delFs

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COL9A3

NM_001853.4:p.G130delFs

hg38:chr20:62821776 GC>G

Associated Papers

Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.

Haskell GT et al.

Neurology. Genetics, 2018

29417091 (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."