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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ZNF267

Variant:p.V358I

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ZNF267

NM_003414.6:p.V358I

hg38:chr16:31915321 G>A

Associated Papers

HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia.

O'Donohue MF et al.

Blood, 2022

35213692 (PubMed )

Supplement: 10.1182-2021011846_bloodbld2021011846-suppl1.pdf

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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."