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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GHR
(P149Q +2 more)
Single nucleotide variant
(missense variant)
Laron syndrome with undetectable serum GH-binding protein
GPathogenic
GHR
(I306fs +2 more)
Deletion
(frameshift variant +1 more)
Laron syndrome with undetectable serum GH-binding protein
GPathogenic
GHR
(E242* +2 more)
Single nucleotide variant
(nonsense)
Laron syndrome with undetectable serum GH-binding protein
GPathogenic
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