Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.L127_V128Splc
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OFD1

NM_003611.3:p.L127_V128Splc

Associated Papers

Genome-wide discovery of human splicing branchpoints.

Mercer TR et al.

Genome Research, 2015

25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs

The molecular basis of oral-facial-digital syndrome, type 1.

Macca M et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2009

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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."