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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GH1, GH-LCR
Single nucleotide variant
(intron variant +1 more)
Idiopathic growth hormone deficiency
GPathogenic
GHRHR
Single nucleotide variant
(synonymous variant)
Idiopathic growth hormone deficiency
+2 more
GBenign
GHRHR
Single nucleotide variant
(intron variant)
Idiopathic growth hormone deficiency
+2 more
GBenign
GHRHR
(E121D)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
GHRHR
(A57T)
Single nucleotide variant
(missense variant)
Idiopathic growth hormone deficiency
+4 more
GBenign
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