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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH10
(R1944H +3 more)
Single nucleotide variant
(missense variant)
Jaw-winking syndrome
GUncertain significance
MYH10
(D74N)
Single nucleotide variant
(missense variant)
Jaw-winking syndrome
GUncertain significance
MYH10
(R1704Q +3 more)
Single nucleotide variant
(missense variant)
Jaw-winking syndrome
GUncertain significance
KIF5C
(E483G)
Single nucleotide variant
(missense variant +1 more)
Jaw-winking syndrome
GUncertain significance
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