Varaico: Literature-Extracted Genetic Variants

Gene:POGZ
Variant:p.R979fs
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POGZ

NM_015100.4:p.R979fs

Associated Papers

White-Sutton syndrome and congenital heart disease: case report and literature review.

Duan J et al.

Bmc Pediatrics, 2023

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.

Nagy D et al.

Genes, 2022

35052493 (PubMed )
Supplement: genes-13-00154-s001.zip › SUPPLEMENTARY_TABLE_REVISED.xlsx › D_Genotype-Phenotype_comparison
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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."