Bibliome.ai browser hg19
FOXD4 c.753C>G ;(p.P251=)
Variant ID: 9-117367-G-C
NM_207305.4(FOXD4 ):c.753C>G;(p.P251=)
This variant was identified in 4 publications
Variant-Specific Resource Links:
Publications:
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: P251P
Variant Present in the following documents:
41598_2022_20939_MOESM8_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: P251P
Variant Present in the following documents:
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: P251P
Variant Present in the following documents:
13073_2021_975_MOESM2_ESM.xlsx, sheet 7
A pan-cancer analysis of synonymous mutations.
Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12
Variant appearance in text: FOXD4: 753C>G
Variant Present in the following documents:
41467_2019_10489_MOESM7_ESM.xlsx, sheet 1