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SECISBP2 c.2043_2044insT ;(p.K682*)
Variant ID: 9-91965697-C-CT
NM_024077.3(
SECISBP2
):c.2043_2044insT;(p.K682*)
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:
A Novel Homozygous Selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2, SBP2) Gene Mutation in a Turkish Boy.
Thyroid : Official Journal Of The American Thyroid Association
Çatli, Gönül G; Fujisawa, Haruki H; Kirbiyik, Özgür Ö; Mimoto, Mizuho S MS; Gençpinar, Pinar P; Özdemir, Taha Reşid TR; Dündar, Bumin Nuri BN; Dumitrescu, Alexandra M AM
Publication Date: 2018-09
Variant appearance in text: SECISBP2: K682fs*1
PubMed Link:
29882503
Variant Present in the following documents:
Main text
View BVdb publication page