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RPS6KB2 c.776T>C ;(p.M259T)
Variant ID: 11-67200665-T-C
NM_003952.2(
RPS6KB2
):c.776T>C;(p.M259T)
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:
KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.
Bmc Medical Genetics
Kumar, Kishore K; Bellad, Anikha A; Prasad, Pramada P; Girimaji, Satish Chandra SC; Muthusamy, Babylakshmi B
Publication Date: 2020-06-26
Variant appearance in text: RPS6KB2: M259T
PubMed Link:
32590954
Variant Present in the following documents:
12881_2020_1074_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page