HR c.908G>T ;(p.G303V)

Variant ID: 8-21985047-C-A

NM_005144.4(HR):c.908G>T;(p.G303V)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Genetic and Epigenetic Constructs of Progressive Supranuclear Palsy.

Annals Of Neurosciences
Debnath, Monojit M; Dey, Saikat S; Sreenivas, Nikhitha N; Pal, Pramod Kumar PK; Yadav, Ravi R
Publication Date: 2022-04

Variant appearance in text: HR: G303V
PubMed Link: 36419517
Variant Present in the following documents:
  • 10.1177_09727531221089396.pdf
View BVdb publication page



Genotype-Phenotype Correlation in Progressive Supranuclear Palsy Syndromes: Clinical and Radiological Similarities and Specificities.

Frontiers In Neurology
Ruiz-Barrio, Iñigo I; Horta-Barba, Andrea A; Illán-Gala, Ignacio I; Kulisevsky, Jaime J; Pagonabarraga, Javier J
Publication Date: 2022

Variant appearance in text: HR: G303V
PubMed Link: 35557621
Variant Present in the following documents:
  • fneur-13-861585.pdf
View BVdb publication page



Genetics of Progressive Supranuclear Palsy: A Review.

Journal Of Parkinson'S Disease
Wen, Yafei Y; Zhou, Yafang Y; Jiao, Bin B; Shen, Lu L
Publication Date: 2021

Variant appearance in text: HR: G303V
PubMed Link: 33104043
Variant Present in the following documents:
  • jpd-11-jpd202302.pdf
View BVdb publication page



Retiring the term FTDP-17 as MAPT mutations are genetic forms of sporadic frontotemporal tauopathies.

Brain : A Journal Of Neurology
Forrest, Shelley L SL; Kril, Jillian J JJ; Stevens, Claire H CH; Kwok, John B JB; Hallupp, Marianne M; Kim, Woojin S WS; Huang, Yue Y; McGinley, Ciara V CV; Werka, Hellen H; Kiernan, Matthew C MC; Götz, Jürgen J; Spillantini, Maria Grazia MG; Hodges, John R JR; Ittner, Lars M LM; Halliday, Glenda M GM
Publication Date: 2018-02-01

Variant appearance in text: HR: G303V
PubMed Link: 29253099
Variant Present in the following documents:
  • awx328.pdf
View BVdb publication page



Genetics of Progressive Supranuclear Palsy.

Journal Of Movement Disorders
Im, Sun Young SY; Kim, Young Eun YE; Kim, Yun Joong YJ
Publication Date: 2015-09

Variant appearance in text: HR: G303V
PubMed Link: 26413239
Variant Present in the following documents:
  • jmd-8-3-122.pdf
View BVdb publication page



Alternative splicing of exon 10 in the tau gene as a target for treatment of tauopathies.

Bmc Neuroscience
Zhou, Jianhua J; Yu, Qingming Q; Zou, Tie T
Publication Date: 2008-12-03

Variant appearance in text: HR: Gly303Val
PubMed Link: 19090983
Variant Present in the following documents:
  • 1471-2202-9-S2-S10.pdf
View BVdb publication page