Varaico: Literature-Extracted Genetic Variants

Gene:POGZ
Variant:p.R385fs
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POGZ

NM_015100.4:p.R385fs

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 › D_Genotype-Phenotype_comparison

Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes.

Matsumura K et al.

Nature Communications, 2020

Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).

Assia Batzir N et al.

American Journal of Medical Genetics. Part A, 2020

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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."