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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AK7
(L673P +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AK7
(L673R +3 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 27
GPathogenic