Varaico: Literature-Extracted Genetic Variants

Gene:ZNF408
Variant:p.R148Q
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ZNF408

NM_024741.3:p.R148Q

Associated Papers

Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.

Green DJ et al.

Genes, 2020

32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal

Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients.

Salvo J et al.

Investigative Ophthalmology & Visual Science, 2015

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