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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH3
(E1377Q)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1A
+3 more
GUncertain significance
TPM2
(Q276E)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1A
+2 more
GUncertain significance
MYH3
(R1609K)
Single nucleotide variant
(missense variant)
Distal arthrogryposis type 2B1
GUncertain significance
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