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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OR5K1

Variant:p.V198I

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OR5K1

NM_001004736.4:p.V198I

hg38:chr3:98470168 G>A

Associated Papers

Santos syndrome is caused by mutation in the WNT7A gene.

Alves LU et al.

Journal of Human Genetics, 2017

28855715 (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."