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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CCT6A

Variant:p.I149T

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CCT6A

NM_001762.4:p.I149T

hg38:chr7:56055733 T>C

Associated Papers

A novel remitting leukodystrophy associated with a variant in FBP2.

Gizak A et al.

Brain Communications, 2021

33977262 (PubMed )

Supplement: fcab036_supplementary_data.zip › Review_files.zip › Original_Submission.pdf

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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."