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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DLG5
(R821*)
Single nucleotide variant
(nonsense)
Yuksel-Vogel-Bauer syndrome
GPathogenic
DLG5
(R1027fs)
Deletion
(frameshift variant)
Yuksel-Vogel-Bauer syndrome
GPathogenic