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Links from Gene

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NAT8L
(E301K)
Single nucleotide variant
(missense variant)
Microcephaly
GUncertain significance
NAT8L
(V245fs)
Duplication
(frameshift variant)
not provided
GUncertain significance