Varaico: Literature-Extracted Genetic Variants

Gene:SPAG1
Variant:p.I897_F901del5
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SPAG1

NM_003114.5:p.I897_F901del5

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
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