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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OFD1

Variant:p.E97K

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OFD1

NM_003611.3:p.E97K

hg38:chrX:13736655 G>A

Associated Papers

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.

Del Giudice E et al.

Orphanet Journal of Rare Diseases, 2014

24884629 (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."