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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OR5H14

Variant:p.E2K

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OR5H14

NM_001005514.2:p.E2K

hg38:chr3:98149389 G>A

Associated Papers

Hypotonia-cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression.

Towheed A et al.

Annals of Clinical and Translational Neurology, 2021

34612606 (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."