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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TCHH
(Q234fs)
Deletion
(frameshift variant)
Uncombable hair syndrome 3
GLikely pathogenic
TCHH
(Q331*)
Single nucleotide variant
(nonsense)
Uncombable hair syndrome 3
GLikely pathogenic