Varaico: Literature-Extracted Genetic Variants

Gene:KIZ
Variant:p.F84fs
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KIZ

NM_018474.6:p.F84fs

Associated Papers

18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.

Kiel C et al.

Scientific Reports, 2024

39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › unsolved_patients

Genetic and Clinical Analyses of the KIZ-c.226C>T Variant Resulting in a Dual Mutational Mechanism.

Sundaresan Y et al.

Genes, 2024

38927740 (PubMed )
Supplement: genes-15-00804-s001.zip › genes-3051641-supplementary.pdf
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