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TBX6 c.504G>T ;(p.L168=)
Variant ID: 16-30100381-C-A
NM_004608.3(
TBX6
):c.504G>T;(p.L168=)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.
Genome Medicine
Wang, Meng M; Banik, Ishani I; Shain, A Hunter AH; Yeh, Iwei I; Bastian, Boris C BC
Publication Date: 2022-06-16
Variant appearance in text: TBX6: L168L
PubMed Link:
35706047
Variant Present in the following documents:
13073_2022_1068_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page
De novo mutations in moderate or severe intellectual disability.
Plos Genetics
Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL
Publication Date: 2014-10
Variant appearance in text: TBX6: L168L
PubMed Link:
25356899
Variant Present in the following documents:
pgen.1004772.s004.xlsx, sheet 39
View BVdb publication page