Title : Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders.

Pub. Date : 2021 Jun

PMID : 33824468






2 Functional Relationships(s)
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Sentence
Compound Name
Protein Name
Organism
1 A monoallelic trinucleotide repeat expansion located within the junctophilin-3 gene (JPH3) has been implicated in a rare autosomal dominant (AD) late-onset (and progressive) disorder clinically resembling Huntington disease (HD), and known as HD-like 2 (HDL2; MIM# 606438). trinucleotide junctophilin 3 Homo sapiens
2 A monoallelic trinucleotide repeat expansion located within the junctophilin-3 gene (JPH3) has been implicated in a rare autosomal dominant (AD) late-onset (and progressive) disorder clinically resembling Huntington disease (HD), and known as HD-like 2 (HDL2; MIM# 606438). trinucleotide junctophilin 3 Homo sapiens