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Links from Gene

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATF6
(R317*)
Single nucleotide variant
(nonsense)
Achromatopsia 7
GPathogenic
ATF6
Single nucleotide variant
(splice acceptor variant)
Achromatopsia 7
GLikely pathogenic
ATF6
Duplication
Achromatopsia 7
GPathogenic
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