Varaico: Literature-Extracted Genetic Variants

Gene:IRX5
Variant:p.E254K
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IRX5

NM_005853.6:p.E254K

Associated Papers

Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium.

Ziccardi L et al.

International Journal of Molecular Sciences, 2022

36498982 (PubMed )
Supplement: ijms-23-14656-s001.zip › Suppl_materials › suppl_material.zip › suppl_material › Supplem_material.pdf
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