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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PPP6R2, LOC126863186
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4B3
GPathogenic
SBF1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4B3
GPathogenic