Varaico: Literature-Extracted Genetic Variants

Gene:AHI1
Variant:p.K1142_Q1143Splc
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AHI1

NM_001134831.2:p.K1142_Q1143Splc

Associated Papers

Expanding the Clinical Spectrum of CEP290 Variants: A Case Report on Non-Syndromic Retinal Dystrophy with a Mild Phenotype.

Esteve-Garcia A et al.

Genes, 2024

39766851 (PubMed )
Supplement: genes-15-01584-s001.zip › genes-3308832-supplementary.pdf
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