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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HDAC9

Variant:p.N813K

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HDAC9

NM_178425.4:p.N813K

hg38:chr7:18829521 T>A

Associated Papers

HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations.

Hirsch N et al.

Genome Research, 2022

35710300 (PubMed )

Supplement: supp_gr.276196.121_Supplemental_Table_S3.xlsx.xlsx › Table_S3

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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."