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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKHD1
Single nucleotide variant
(intron variant)
Oligohydramnios
+2 more
GUncertain significance
PKHD1
(T36M)
Single nucleotide variant
(missense variant)
Autosomal recessive polycystic kidney disease
+8 more
GPathogenic/Likely pathogenic