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F8 c.592T>C ;(p.C198R)
Variant ID: X-154221220-A-G
NM_000132.3(
F8
):c.592T>C;(p.C198R)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.
Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021
Variant appearance in text: F8: 592T>C; C198R
PubMed Link:
34887858
Variant Present in the following documents:
Table_3.xlsx, sheet 1
View BVdb publication page
Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations
Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology
Atik, Tahir T; Işık, Esra E; Onay, Hüseyin H; Akgün, Bilçağ B; Shamsali, Moharram M; Kavaklı, Kaan K; Evim, Melike M; Tüysüz, Gülen G; Özbek, Namık Yaşar NY; Şahin, Fahri F; Salcıoğlu, Zafer Z; Albayrak, Canan C; Oymak, Yeşim Y; Ünal, Ekrem E; Belen, Fatma Burcu FB; Yılmaz Keskin, Ebru E; Balkan, Can C; Baytan, Birol B; Küpesiz, Alphan A; Culha, Vildan V; Tahtakesen Güçer, Tuba Nur TN; Güneş, Adalet Meral AM; Özkınay, Ferda F
Publication Date: 2020-08-28
Variant appearance in text: F8: C198R
PubMed Link:
32026663
Variant Present in the following documents:
TJH-37-145.pdf
View BVdb publication page
First report of molecular diagnosis of Tunisian hemophiliacs A: identification of 8 novel causative mutations.
Diagnostic Pathology
Elmahmoudi, Hejer H; Khodjet-el-khil, Houssein H; Wigren, Edvard E; Jlizi, Asma A; Zahra, Kaouther K; Pellechia, Dorothé D; Vinciguerra, Christine C; Meddeb, Balkis B; Elggaaied, Amel Ben Ammar AB; Gouider, Emna E
Publication Date: 2012-08-10
Variant appearance in text: FVIII: 592T>C
PubMed Link:
22883072
Variant Present in the following documents:
Main text
1746-1596-7-93.pdf
View BVdb publication page