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PCSK9 c.203C>A ;(p.A68D)
Variant ID: 1-55505713-C-A
NM_174936.3(
PCSK9
):c.203C>A;(p.A68D)
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:
Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.
Journal Of Translational Medicine
Gandhi, Geethanjali Devadoss GD; Aamer, Waleed W; Krishnamoorthy, Navaneethakrishnan N; Syed, Najeeb N; Aliyev, Elbay E; Al-Maraghi, Aljazi A; Kohailan, Muhammad M; Alenbawi, Jamil J; Elanbari, Mohammed M; , ; Mifsud, Borbala B; Mokrab, Younes Y; Khalil, Charbel Abi CA; Fakhro, Khalid A KA
Publication Date: 2022-11-03
Variant appearance in text: PCSK9: 203C>A; Ala68Asp
PubMed Link:
36329474
Variant Present in the following documents:
12967_2022_Article_3697.pdf
View BVdb publication page