autosomal recessive dyskeratosis congenita 6

Summary
Synonym
  • DKCB6
Definition
A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the PARN gene on chromosome 16p13.12.
Super Class
autosomal recessive disease dyskeratosis congenita
Disease Ontology
DOID:0070024
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5073 PARN poly(A)-specific ribonuclease

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024