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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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