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
Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.
Ullah E et al.
Ophthalmic Genetics, 0
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