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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DYNC2H1

Variant:p.G2198del1

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DYNC2H1

NM_001377.3:p.G2198del1

hg38:chr11:103185009 TGGA>T

Associated Papers

Radiological and histopathological features of short rib‑polydactyly syndrome type III and identification of two novel DYNC2H1 variants.

Xia CL et al.

Molecular Medicine Reports, 2021

33846808 (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."