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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CACNA1C

Variant:p.D57N

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CACNA1C

NM_000719.7:p.D57N

hg38:chr12:2115343 G>A

Associated Papers

Identification of rare paired box 3 variant in strabismus by whole exome sequencing.

Gong HM et al.

International Journal of Ophthalmology, 2017

28861346 (PubMed )

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )

Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1

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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."