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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL1A2

Variant:p.G619_N620del2

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COL1A2

NM_000089.4:p.G619_N620del2

hg38:chr7:94416494 TGGAAAC>T

Associated Papers

Myoclonus-dystonia: significance of large SGCE deletions.

Grünewald A et al.

Human Mutation, 2008

18205193 (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."