NRP2 c.1000C>A ;(p.R334S)

Variant ID: 2-206592624-C-A

NM_003872.2(NRP2):c.1000C>A;(p.R334S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The advances of genetics research on Hirschsprung's disease.

Pediatric Investigation
Ke, Juntao J; Zhu, Ying Y; Miao, Xiaoping X
Publication Date: 2018-09

Variant appearance in text: rs114144673
PubMed Link: 32851260
Variant Present in the following documents:
  • Main text
  • PED4-2-189.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs114144673
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: rs114144673
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page