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Links from Gene

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC24A1
(S310* +3 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SLC24A1
(A227fs)
Deletion
(frameshift variant)
Retinal dystrophy
GLikely pathogenic