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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CEL

Variant:p.P627L

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CEL

NM_001807.6:p.P627L

hg38:chr9:133071382 C>T

Associated Papers

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.

Helou J et al.

Journal of Medical Genetics, 2007

17617513 (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."