Bibliome.ai browser hg19
FOXD4 c.243G>A ;(p.E81=)
Variant ID: 9-117877-C-T
NM_207305.4(FOXD4 ):c.243G>A;(p.E81=)
This variant was identified in 8 publications
Variant-Specific Resource Links:
Publications:
Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.
Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11
Variant appearance in text: FOXD4: E81E; rs7022056
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14
Variant appearance in text: FOXD4: E81E
Variant Present in the following documents:
41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.
Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08
Variant appearance in text: FOXD4: E81E
Variant Present in the following documents:
41439_2022_208_MOESM3_ESM.xlsx, sheet 2
41439_2022_208_MOESM5_ESM.xlsx, sheet 2
Multiscale heterogeneity in gastric adenocarcinoma evolution is an obstacle to precision medicine.
Genome Medicine
Röcken, Christoph C; Amallraja, Anu A; Halske, Christine C; Opasic, Luka L; Traulsen, Arne A; Behrens, Hans-Michael HM; Krüger, Sandra S; Liu, Anne A; Haag, Jochen J; Egberts, Jan-Hendrik JH; Rosenstiel, Philip P; Meißner, Tobias T
Publication Date: 2021-11-08
Variant appearance in text: FOXD4: E81E
Variant Present in the following documents:
13073_2021_975_MOESM2_ESM.xlsx, sheet 7
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20
Variant appearance in text: rs7022056
Variant Present in the following documents:
42003_2020_885_MOESM2_ESM.xlsx, sheet 1
Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.
Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04
Variant appearance in text: rs7022056
Variant Present in the following documents:
41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.
Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20
Variant appearance in text: FOXD4: E81E; rs7022056
Variant Present in the following documents:
oncotarget-06-15375-s005.xlsx, sheet 2
Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.
Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02
Variant appearance in text: FOXD4: E81E; rs7022056
Variant Present in the following documents:
cas0105-0202-SD3.xlsx, sheet 1