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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BEST1, FTH1
Deletion
(nonsense +1 more)
not provided
GPathogenic
BEST1, FTH1
(S164*)
Duplication
(nonsense +1 more)
Neurodegeneration with brain iron accumulation 9
GPathogenic