Varaico: Literature-Extracted Genetic Variants

Gene:RSPH4A
Variant:p.L592delFs
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RSPH4A

NM_001010892.3:p.L592delFs

Associated Papers

Analysis of clinical and genetic features in an adolescent patient with primary ciliary dyskinesia induced by homozygous mutation in the RSPH4A gene: a case report.

Xu W et al.

Frontiers in Pediatrics, 2025

A novel homozygous RSPH4A variant in a family with primary ciliary dyskinesia and literature review.

Shen C et al.

Frontiers in Genetics, 2024

The RSPH4A Gene in Primary Ciliary Dyskinesia.

De Jesús-Rojas W et al.

International Journal of Molecular Sciences, 2023

Novel RSPH4A Variants Associated With Primary Ciliary Dyskinesia-Related Infertility in Three Chinese Families.

Wang L et al.

Frontiers in Genetics, 2022

Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis.

Chau JFT et al.

Frontiers in Genetics, 2022

A Fetus with Ciliopathy Caused by a RSPH4A Variant Diagnosed Due to Increased Ventricular Size.

Zhen L et al.

Journal of Medical Ultrasound, 0

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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."