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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931343, POLR3GL
(R120* +1 more)
Single nucleotide variant
(nonsense)
POLR3GL-related condition
GPathogenic
POLR3GL
Single nucleotide variant
(splice acceptor variant)
POLR3GL-related condition
GPathogenic
LOC129931343, POLR3GL
Single nucleotide variant
(splice acceptor variant)
Short stature, oligodontia, dysmorphic facies, and motor delay
+4 more
GPathogenic/Likely pathogenic
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