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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DHX16
(F101I +2 more)
Single nucleotide variant
(missense variant)
Corpus callosum, agenesis of
+7 more
GPathogenic/Likely pathogenic
DHX37
(D382G)
Single nucleotide variant
(missense variant)
Intellectual disability
+9 more
GLikely pathogenic