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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DHX34
(Q156*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorders
+6 more
GLikely pathogenic
LOX, SRFBP1
(V254I +1 more)
Single nucleotide variant
(missense variant +1 more)
Emphysema
+5 more
GConflicting classifications of pathogenicity