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Links from Gene

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RBP4, FFAR4
(G93D +1 more)
Single nucleotide variant
(missense variant)
Progressive retinal dystrophy due to retinol transport defect
GLikely pathogenic
FFAR4, RBP4
(I59N +1 more)
Single nucleotide variant
(missense variant)
Progressive retinal dystrophy due to retinol transport defect
+1 more
GConflicting classifications of pathogenicity