SI c.548C>A ;(p.P183H)

Variant ID: 3-164785215-G-T

NM_001041.3(SI):c.548C>A;(p.P183H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The nuclear envelopathies and human diseases.

Journal Of Biomedical Science
Chi, Ya-Hui YH; Chen, Zi-Jie ZJ; Jeang, Kuan-Teh KT
Publication Date: 2009-10-22

Variant appearance in text: SI: P183H
PubMed Link: 19849840
Variant Present in the following documents:
  • 1423-0127-16-96.pdf
View BVdb publication page



Structure of aspartoacylase, the brain enzyme impaired in Canavan disease.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Bitto, Eduard E; Bingman, Craig A CA; Wesenberg, Gary E GE; McCoy, Jason G JG; Phillips, George N GN
Publication Date: 2007-01-09

Variant appearance in text: SI: P183H
PubMed Link: 17194761
Variant Present in the following documents:
  • Main text
View BVdb publication page