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PC c.23A>C ;(p.H8P)
Variant ID: 11-66639608-T-G
NM_001040716.1(
PC
):c.23A>C;(p.H8P)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Reconstitution of Phase-Separated Signaling Clusters and Actin Polymerization on Supported Lipid Bilayers.
Frontiers In Cell And Developmental Biology
Cheng, Xiaohang X; Ullo, Maria F MF; Case, Lindsay B LB
Publication Date: 2022
Variant appearance in text: PC: his8pro
PubMed Link:
35959492
Variant Present in the following documents:
fcell-10-932483.pdf
View BVdb publication page
Primary Immunodeficiencies and Hematologic Malignancies: A Diagnostic Approach.
Frontiers In Immunology
Chandra, Sharat S; Kalashnikova, Tatiana T; Wright, Nicola A M NAM; Dávila Saldaña, Blachy J BJ
Publication Date: 2022
Variant appearance in text: PC: 23A>C; His8Pro
PubMed Link:
35371103
Variant Present in the following documents:
fimmu-13-852937.pdf
View BVdb publication page
Selected Abstracts from the 12th Annual Meeting of the Clinical Immunology Society: 2021 Virtual Annual Meeting: Immune Deficiency and Dysregulation North American Conference.
Journal Of Clinical Immunology
Publication Date: 2021-04
Variant appearance in text: PC: 23A>C; His8pro
PubMed Link:
33822308
Variant Present in the following documents:
Main text
View BVdb publication page