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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BNC1
(L642S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BNC1
(R973* +1 more)
Single nucleotide variant
(nonsense)
Premature ovarian failure 16
GUncertain significance
BNC1
(R349fs +1 more)
Deletion
(frameshift variant)
Premature ovarian failure 16
GPathogenic
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