Associated Papers
Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.
Perne C et al.
Plos One, 2021
34843512 (PubMed )
Supplement: pone.0259185.s010.xlsx › Tabelle1
NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).
Schorderet DF et al.
Human Mutation, 2009
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