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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAX2
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 95
GPathogenic
RAX2
Deletion
Retinitis pigmentosa 95
GPathogenic
RAX2
(A113fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
RAX2
(P52L)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
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