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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP11A
(A37V)
Indel
(missense variant)
Leukodystrophy, hypomyelinating, 24
GUncertain significance
ATP11A
(Q84E)
Single nucleotide variant
(missense variant)
Leukodystrophy, hypomyelinating, 24
GPathogenic