Varaico: Literature-Extracted Genetic Variants

Gene:PLCB4
Variant:p.D630N
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PLCB4

NM_000933.4:p.D630N

Associated Papers

Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome.

Kim D et al.

Journal of Human Genetics, 2025

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Seo GH et al.

Molecular Medicine (cambridge, Mass.), 2022

35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2
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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."