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HP c.759A>T ;(p.K253N)
Variant ID: 16-72094327-A-T
NM_005143.3(
HP
):c.759A>T;(p.K253N)
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:
Crystallization and preliminary diffraction analysis of truncated human pleckstrin.
Acta Crystallographica. Section F, Structural Biology And Crystallization Communications
Jackson, Sean S; Sugiman-Marangos, Seiji S; Cheung, Kelvin K; Junop, Murray M
Publication Date: 2011-03-01
Variant appearance in text: HP: K253N
PubMed Link:
21393855
Variant Present in the following documents:
Main text
View BVdb publication page