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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PARK7
(A39S)
Single nucleotide variant
(missense variant)
Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1
GPathogenic
PINK1, PINK1-AS
(P399L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive early-onset Parkinson disease 6
GUncertain significance