Varaico: Literature-Extracted Genetic Variants

Gene:ECHDC2
Variant:p.L227P
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ECHDC2

NM_001198961.2:p.L227P

Associated Papers

Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene.

Baz-Redón N et al.

Cells, 2024

38534367 (PubMed )
Supplement: cells-13-00524-s001.zip › Baz-Redon_Supplementary_Materials.pdf
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