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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LRCH2
(K258E)
Single nucleotide variant
(missense variant)
Demyelinating peripheral neuropathy
+1 more
GPathogenic
KIF5A
(A580T +1 more)
Single nucleotide variant
(missense variant)
Demyelinating peripheral neuropathy
GUncertain significance
KIF5A
(R280H +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
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