Varaico: Literature-Extracted Genetic Variants

Gene:LCA5
Variant:p.K172_E173delFs
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LCA5

NM_001122769.3:p.K172_E173delFs

Associated Papers

Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.

Zobor D et al.

International Journal of Molecular Sciences, 2023

37240262 (PubMed )
Supplement: ijms-24-08915-s001.zip › ijms-2363585-supplementary.pdf

Mutation in CEP135 causing primary microcephaly and subcortical heterotopia.

Bamborschke D et al.

American Journal of Medical Genetics. Part A, 2020

32643282 (PubMed )
Supplement: supplement_1.docx
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