Varaico: Literature-Extracted Genetic Variants

Gene:SPAG1
Variant:p.I507insFs
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SPAG1

NM_003114.5:p.I507insFs

Associated Papers

Noncoding DNA Variants Increase the Genetic Diagnostic Yield in Primary Ciliary Dyskinesia.

Briggs L et al.

American Journal of Respiratory and Critical Care Medicine, 2025

Recognizing clinical features of primary ciliary dyskinesia in the perinatal period.

Mapala L et al.

Journal of Perinatology : Official Journal of the California Perinatal Association, 2024

Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.

Shoemark A et al.

The European Respiratory Journal, 2021

Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.

Marshall CR et al.

G3 (bethesda, Md.), 2015

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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."