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GC c.1015_1016insT ;(p.N339Ifs*7)
Variant ID: 4-72622447-T-TA
NM_000583.3(
GC
):c.1015_1016insT;(p.N339Ifs*7)
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:
Genotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review.
Bmc Neurology
Atasu, Burcu B; Acarlı, Ayse Nur Ozdag ANO; Bilgic, Basar B; Baykan, Betül B; Demir, Erol E; Ozluk, Yasemin Y; Turkmen, Aydin A; Hauser, Ann-Kathrin AK; Guven, Gamze G; Hanagasi, Hasmet H; Gurvit, Hakan H; Emre, Murat M; Gasser, Thomas T; Lohmann, Ebba E
Publication Date: 2022-03-28
Variant appearance in text: GC: 1015insT
PubMed Link:
35346091
Variant Present in the following documents:
Main text
12883_2022_Article_2628.pdf
View BVdb publication page