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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HDAC8

Variant:p.P91_G97del0

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HDAC8

NM_018486.3:p.P91_G97del0

hg38:chrX:72568756 AGCCCATATTCTATGGAGTCCG>A

Associated Papers

Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.

Fearn A et al.

Physiological Reports, 2018

29924459 (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."