ARSA c.-345G>A

Variant ID: 22-51066552-C-T

NM_000487.5(ARSA):c.-345G>A

This variant was identified in 2 publications

View GRCh38 version.




Publications:


PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs6151406
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.

Neurobiology Of Aging
Sassi, Celeste C; Nalls, Michael A MA; Ridge, Perry G PG; Gibbs, Jesse R JR; Lupton, Michelle K MK; Troakes, Claire C; Lunnon, Katie K; Al-Sarraj, Safa S; Brown, Kristelle S KS; Medway, Christopher C; Lord, Jenny J; Turton, James J; Bras, Jose J; , ; Blumenau, Sonja S; Thielke, Mareike M; Josties, Christa C; Freyer, Dorette D; Dietrich, Annette A; Hammer, Monia M; Baier, Michael M; Dirnagl, Ulrich U; Morgan, Kevin K; Powell, John F JF; Kauwe, John S JS; Cruchaga, Carlos C; Goate, Alison M AM; Singleton, Andrew B AB; Guerreiro, Rita R; Hodges, Angela A; Hardy, John J
Publication Date: 2018-06

Variant appearance in text: rs6151406
PubMed Link: 29544907
Variant Present in the following documents:
  • mmc3.xlsx, sheet 4
View BVdb publication page