Varaico: Literature-Extracted Genetic Variants

Gene:HMGB4
Variant:p.L66L
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HMGB4

NM_001379301.1:p.L66L

Associated Papers

Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability.

Ghaffar A et al.

European Journal of Human Genetics : Ejhg, 2022

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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."