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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMPX
(P7T)
Single nucleotide variant
(missense variant +1 more)
Myopathy, distal, 7, adult-onset, X-linked
GPathogenic
SMPX
(A13V)
Single nucleotide variant
(missense variant +1 more)
Myopathy, distal, 7, adult-onset, X-linked
GPathogenic
SMPX
(P27A)
Single nucleotide variant
(missense variant +1 more)
Myopathy, distal, 7, adult-onset, X-linked
GPathogenic
SMPX
(S78N)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
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