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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MATN3
(V176L)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, matrilin-3 type
+3 more
GUncertain significance
MATN3
(T120M)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 5
+2 more
GPathogenic/Likely pathogenic
MATN3, WDR35-DT
(C304S)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, matrilin-3 type
GPathogenic
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