U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLEKHM1
(P450T)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
PLEKHM1
Single nucleotide variant
(splice donor variant)
Autosomal recessive osteopetrosis 6
GPathogenic