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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHD1L
(P14L)
Single nucleotide variant
(missense variant +4 more)
Abnormality of the urinary system
GUncertain significance
Translocation
Abnormality of vision
+6 more
GLikely pathogenic