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Links from OMIM

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDHA2
(M227V)
Single nucleotide variant
(missense variant)
Spermatogenic failure 70
+2 more
GPathogenic
GDF5, GDF5-AS1
(R378Q)
Single nucleotide variant
(missense variant +1 more)
Acromesomelic dysplasia 2B
GPathogenic
GDF5, GDF5-AS1
(L441P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GPathogenic
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