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HP c.312G>C ;(p.E104D)
Variant ID: 16-72092199-G-C
NM_005143.3(
HP
):c.312G>C;(p.E104D)
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:
Intelligent speech technologies for transcription, disease diagnosis, and medical equipment interactive control in smart hospitals: A review.
Computers In Biology And Medicine
Zhang, Jun J; Wu, Jingyue J; Qiu, Yiyi Y; Song, Aiguo A; Li, Weifeng W; Li, Xin X; Liu, Yecheng Y
Publication Date: 2023-01-05
Variant appearance in text: HP: E104D
PubMed Link:
36623438
Variant Present in the following documents:
main.pdf
View BVdb publication page
Solution structure and fluctuation of the Mg(2+)-bound form of calmodulin C-terminal domain.
Protein Science : A Publication Of The Protein Society
Ohashi, Wakana W; Hirota, Hiroshi H; Yamazaki, Toshio T
Publication Date: 2011-04
Variant appearance in text: HP: E104D
PubMed Link:
21312310
Variant Present in the following documents:
Main text
View BVdb publication page