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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RUNX2

Variant:p.V188M

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RUNX2

NM_001024630.4:p.V188M

hg38:chr6:45432001 G>A

Associated Papers

Homozygous duplication identified by whole genome sequencing causes LRBA deficiency.

Merico D et al.

Npj Genomic Medicine, 2021

34795304 (PubMed )

Supplement: 41525_2021_263_MOESM2_ESM.xlsx › Autosomal_dominant__N_11_

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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."