Varaico: Literature-Extracted Genetic Variants

Gene:POGZ
Variant:p.E1348Q
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POGZ

NM_015100.4:p.E1348Q

Associated Papers

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 › B_detailed_literature

A case of White-Sutton syndrome arising from a maternally-inherited mutation in POGZ.

Liu S et al.

Psychiatric Genetics, 2021

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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."