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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTNS
Single nucleotide variant
(intron variant)
Nephropathic cystinosis
+4 more
GPathogenic
CTNS
(T7fs)
Deletion
(frameshift variant +2 more)
CTNS-related disorder
+7 more
GPathogenic
CTNS, CTNS-AS1
Deletion
(splice donor variant)
Nephropathic cystinosis
+4 more
GPathogenic/Likely pathogenic
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