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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLK1

Variant:p.R6T

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CLK1

NM_004071.4:p.R6T

hg38:chr2:200861846 C>G

Associated Papers

Mutations in RELT cause autosomal recessive amelogenesis imperfecta.

Kim JW et al.

Clinical Genetics, 2019

30506946 (PubMed )

Supplement: CGE-95-375-s001.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."