Varaico: Literature-Extracted Genetic Variants

Gene:RSPH4A
Variant:p.V368G
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RSPH4A

NM_001010892.3:p.V368G

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

Advancing Primary Ciliary Dyskinesia Diagnosis through High-Speed Video Microscopy Analysis.

De Jesús-Rojas W et al.

Cells, 2024

The Genetics of Primary Ciliary Dyskinesia in Puerto Rico.

De Jesús-Rojas W et al.

Diagnostics (basel, Switzerland), 2022

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

Wang L et al.

Frontiers in Genetics, 2022

Primary Ciliary Dyskinesia: Ancestral Haplotypes Analysis of the RSPH4A Founder Mutation in Puerto Rico.

De Jesús-Rojas W et al.

Cureus, 2021

Primary Ciliary Dyskinesia Diagnostic Challenges: Understanding the Clinical Phenotype of the Puerto Rican RSPH4A Founder Mutation.

De Jesús-Rojas W et al.

Diagnostics (basel, Switzerland), 2021

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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."