Varaico: Literature-Extracted Genetic Variants

Gene:HMGXB4
Variant:p.K398fs
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HMGXB4

NM_001003681.3:p.K398fs

Associated Papers

Biallelic HMGXB4 loss-of-function variant causes intellectual disability, developmental delay, and dysmorphic features.

Al Mutairi F et al.

Heliyon, 2024

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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."