HP c.582A>G ;(p.E194=)

Variant ID: 16-72094150-A-G

NM_005143.3(HP):c.582A>G;(p.E194=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Takada, Leonel T LT; Kim, Mee-Ohk MO; Cleveland, Ross W RW; Wong, Katherine K; Forner, Sven A SA; Gala, Ignacio Illán II; Fong, Jamie C JC; Geschwind, Michael D MD
Publication Date: 2017-01

Variant appearance in text: HP: E194E
PubMed Link: 27943639
Variant Present in the following documents:
  • Main text
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