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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ELOVL1, MIR6734
Single nucleotide variant
(non-coding transcript variant +1 more)
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
GPathogenic
ELOVL1
(S165F +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic