Varaico: Literature-Extracted Genetic Variants

Gene:SPAG1
Variant:p.L299_K301delFs
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SPAG1

NM_003114.5:p.L299_K301delFs

Associated Papers

Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia.

Beaman MM et al.

American Journal of Medical Genetics. Part A, 2025

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

Marshall CR et al.

G3 (bethesda, Md.), 2015

26139845 (PubMed )
Supplement: supp_g3.115.019851_019851SI.pdf

[Clinical features of Bardet-Biedl syndrome with renal abnormalities as initial manifestations].

Wang H et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014

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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."