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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IQCN
(Q772fs +1 more)
Deletion
(frameshift variant)
Spermatogenic failure 78
GPathogenic
IQCN
(Q304* +1 more)
Single nucleotide variant
(nonsense)
Spermatogenic failure 78
GLikely pathogenic