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PABPN1

poly(A) binding protein nuclear 1

HCNC Approved Symbol
PABPN1 (HGNC:8565)
Genomic Coordinates
14:23,321,457 - 23,326,163 (14q11.2)
Synonyms
PAB2, OPMD, PABP2
Disease Associations
This gene is associated with the following 1 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Oculopharyngeal muscular dystrophy
164300AD

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the PABPN1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

No Results