Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC5
Variant:p.R113C
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EXOSC5

NM_020158.4:p.R113C

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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