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Links from Gene

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KAT8
(R99Q)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KAT8
(G19R)
Single nucleotide variant
(missense variant)
Li-Ghorbani-Weisz-Hubshman syndrome
GUncertain significance