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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DYNC1H1

Variant:p.W1537R

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DYNC1H1

NM_001376.5:p.W1537R

hg38:chr14:102002603 T>C

Associated Papers

The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.

Becker LL et al.

Journal of Human Genetics, 2020

32788638 (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."