Varaico: Literature-Extracted Genetic Variants

Gene:ZMIZ1
Variant:p.A304P
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ZMIZ1

NM_020338.4:p.A304P

Associated Papers

Genetic and functional analysis of ZMIZ1 in neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA): insights from muscle cells and signaling pathways.

Li S et al.

Pediatric Research, 2025

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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."