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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HDAC4

Variant:p.P248L

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HDAC4

NM_001378414.1:p.P248L

hg38:chr2:239144705 G>A

Associated Papers

Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome.

Wakeling E et al.

Hgg Advances, 2021

33537682 (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."