HR c.532G>A ;(p.D178N)

Variant ID: 8-21986152-C-T

NM_005144.4(HR):c.532G>A;(p.D178N)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Dysfunction of the Cardiac Parasympathetic System in Fatal Familial Insomnia: A Heart Rate Variability Study.

Sleep
Cui, Yue Y; Huang, Zhaoyang Z; Chu, Min M; Xie, Kexin K; Zhan, Shuqin S; Ghorayeb, Imad I; Garay, Arturo A; Chen, Zhongyun Z; Jing, Donglai D; Wang, Yingtao Y; Wu, Liyong L
Publication Date: 2022-12-06

Variant appearance in text: HR: D178N
PubMed Link: 36472576
Variant Present in the following documents:
  • Main text
  • zsac294.pdf
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: HR: 532G>A; Asp178Asn
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Manipulating the Prion Protein Gene Sequence and Expression Levels with CRISPR/Cas9.

Plos One
Kaczmarczyk, Lech L; Mende, Ylva Y; Zevnik, Branko B; Jackson, Walker S WS
Publication Date: 2016

Variant appearance in text: HR: D178N
PubMed Link: 27128441
Variant Present in the following documents:
  • Main text
View BVdb publication page



Drivers: A Biologically Contextualized, Cross-Inferential View of the Epidemiology of Neurodegenerative Disorders.

Journal Of Alzheimer'S Disease : Jad
de Pedro-Cuesta, Jesús J; Martínez-Martín, Pablo P; Rábano, Alberto A; Alcalde-Cabero, Enrique E; José García López, Fernando F; Almazán-Isla, Javier J; Ruiz-Tovar, María M; Medrano, Maria-José MJ; Avellanal, Fuencisla F; Calero, Olga O; Calero, Miguel M
Publication Date: 2016

Variant appearance in text: HR: D178N
PubMed Link: 26923014
Variant Present in the following documents:
  • Main text
  • jad-51-jad150884.pdf
View BVdb publication page