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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NAV3
(Q222*)
Single nucleotide variant
(nonsense)
Hearing impairment
+6 more
GUncertain significance
PTPRD, PUM3
+52 more
Copy number loss
Trigonocephaly
GPathogenic