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HP c.1006G>C ;(p.E336Q)
Variant ID: 16-72094574-G-C
NM_005143.3(
HP
):c.1006G>C;(p.E336Q)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Characterization of the connexin45 carboxyl-terminal domain structure and interactions with molecular partners.
Biophysical Journal
Kopanic, Jennifer L JL; Al-mugotir, Mona H MH; Kieken, Fabien F; Zach, Sydney S; Trease, Andrew J AJ; Sorgen, Paul L PL
Publication Date: 2014-05-20
Variant appearance in text: HP: E336Q
PubMed Link:
24853747
Variant Present in the following documents:
Main text
View BVdb publication page