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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHD6

Variant:p.E2697fs

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CHD6

NM_032221.5:p.E2697fs

hg38:chr20:41404652 TTC>N

Associated Papers

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.

Thomsen M et al.

Annals of Clinical and Translational Neurology, 2025

40533913 (PubMed )

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.

Thomsen M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39677454 (PubMed )

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