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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GAN
(Q94*)
Single nucleotide variant
(nonsense +1 more)
Giant axonal neuropathy
GUncertain significance
GAN
(P315L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity