Varaico: Literature-Extracted Genetic Variants

Gene:BAZ1B
Variant:p.L554Q
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BAZ1B

NM_032408.4:p.L554Q

Associated Papers

Novel Variants and Clinical Heterogeneity in Pediatric Calcium Metabolism Disorders Identified Through High-Yield Tiered Genetic Testing in a Taiwanese Cohort.

Kang TY et al.

Medicina (kaunas, Lithuania), 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."