Varaico: Literature-Extracted Genetic Variants

Gene:POU3F3
Variant:p.I400fs
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POU3F3

NM_006236.3:p.I400fs

Associated Papers

A de novo heterozygous POU3F3 genotype for the p.(Q214*) variant in a fetus with transient isolated bilateral mild ventriculomegaly: a case report and review of the literature.

Zhang H et al.

Frontiers in Pediatrics, 2023

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.

Snijders Blok L et al.

American Journal of Human Genetics, 2019

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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."