Varaico: Literature-Extracted Genetic Variants

Gene:TTC21B
Variant:p.Y439*
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TTC21B

NM_024753.5:p.Y439*

Associated Papers

Case report of visual quality in a patient with nephronophthisis 12- associated retinopathy secondary to TTC21B mutation.

Bartol-Puyal FA et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2024

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