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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC30A2
(T128fs +1 more)
Deletion
(frameshift variant)
Zinc deficiency, transient neonatal
GLikely pathogenic
SLC30A2
(R72H)
Single nucleotide variant
(missense variant)
Zinc deficiency, transient neonatal
GUncertain significance
SLC30A2
(G87R)
Single nucleotide variant
(missense variant)
Zinc deficiency, transient neonatal
GPathogenic
SLC30A2
(H54R)
Single nucleotide variant
(missense variant)
Zinc deficiency, transient neonatal
GPathogenic
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