Varaico: Literature-Extracted Genetic Variants

Gene:POGZ
Variant:p.P906S
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POGZ

NM_015100.4:p.P906S

Associated Papers

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

Duan J et al.

Bmc Pediatrics, 2023

37016333 (PubMed )
Supplement: 12887_2023_3972_MOESM1_ESM.xlsx › Sheet1

New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.

Bruno LP et al.

International Journal of Molecular Sciences, 2021

34948243 (PubMed )
Supplement: ijms-22-13439-s001.zip › cartella_senza_titolo › Table_S3_Molecular_information_of_the_variants___2_.xlsx › Foglio1

De novo mutations in folate-related genes associated with common developmental disorders.

Luo T et al.

Computational and Structural Biotechnology Journal, 2021

33777337 (PubMed )
Supplement: mmc6.xlsx › Sheet1

Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.

Liu Z et al.

Frontiers in Genetics, 2018

30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1
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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."