Varaico: Literature-Extracted Genetic Variants

Gene:FOXJ1
Variant:p.I314fs
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FOXJ1

NM_001454.4:p.I314fs

Associated Papers

FOXJ1 Variants Causing Primary Ciliary Dyskinesia with Hydrocephalus: A Case Report from Japan.

Ito M et al.

Internal Medicine (tokyo, Japan), 2024

Novel dominant-negative FOXJ1 mutation in a family with heterotaxy plus mouse model.

Li L et al.

Translational Pediatrics, 2023

Congenital heart defects caused by FOXJ1.

Padua MB et al.

Human Molecular Genetics, 2023

Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus.

Shapiro AJ et al.

Molecular Genetics & Genomic Medicine, 2021

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.

Wallmeier J 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."