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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNC3

Variant:p.I531_M544del0

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KCNC3

NM_004977.3:p.I531_M544del0

hg38:chr19:50323321 CATGCCAAAGTTGTTGACAATGACGGGCACAGGCATGGCG>C

Associated Papers

Spinocerebellar ataxias (SCAs) caused by common mutations.

Müller U

Neurogenetics, 2021

34401960 (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."