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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OTX2

Variant:p.A226delFs

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OTX2

NM_172337.3:p.A226delFs

hg38:chr14:56801927 TG>T

Associated Papers

The phenotypic spectrum associated with OTX2 mutations in humans.

Gregory LC et al.

European Journal of Endocrinology, 2021

33950863 (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."