ADAMTSL1 c.1877-3448G>T

Variant ID: 9-18718086-G-T

NM_001040272.5(ADAMTSL1):c.1877-3448G>T

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs4977338
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: ADAMTSL1: 1877-3448G>T; rs4977338
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Comorbidity of Alcohol Use Disorder and Chronic Pain: Genetic Influences on Brain Reward and Stress Systems.

Alcoholism, Clinical And Experimental Research
Yeung, Ellen W EW; Craggs, Jason G JG; Gizer, Ian R IR
Publication Date: 2017-11

Variant appearance in text: rs4977338
PubMed Link: 29048744
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs4977338
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



A genome-wide analysis of 'Bounty' descendants implicates several novel variants in migraine susceptibility.

Neurogenetics
Cox, Hannah C HC; Lea, Rod A RA; Bellis, Claire C; Carless, Melanie M; Dyer, Thomas D TD; Curran, Joanne J; Charlesworth, Jac J; Macgregor, Stuart S; Nyholt, Dale D; Chasman, Daniel D; Ridker, Paul M PM; Schürks, Markus M; Blangero, John J; Griffiths, Lyn R LR
Publication Date: 2012-08

Variant appearance in text: rs4977338
PubMed Link: 22678113
Variant Present in the following documents:
  • Main text
View BVdb publication page