Publications:

Distinct non-clock-like signatures of the basal cell carcinomas from three sisters with a lethal Gorlin-Goltz syndrome.

Bmc Medical Genomics

Ye, Lihua L; Wang, Li L; Peng, Kexin K; Fang, Ou O; Tian, Zhen Z; Li, Caihua C; Fu, Xiaopeng X; Chen, Qingdong Q; Chen, Jia J; Luan, Jing J; Zhang, Zhenghua Z; Zhang, Qiaoan Q

Publication Date: 2022-08-05

Variant appearance in text: F8: 1337G>A; Arg446Gln; rs781889613

PubMed Link: 35932013

Variant Present in the following documents:

• 12920_2022_1324_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: F8: 1337G>A; R446Q

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: F8: 1337G>A

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

View BVdb publication page

Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Legrand, Anne A; Treard, Cyrielle C; Roncelin, Isabelle I; Dreux, Sophie S; Bertholet-Thomas, Aurélia A; Broux, Françoise F; Bruno, Daniele D; Decramer, Stéphane S; Deschenes, Georges G; Djeddi, Djamal D; Guigonis, Vincent V; Jay, Nadine N; Khalifeh, Tackwa T; Llanas, Brigitte B; Morin, Denis D; Morin, Gilles G; Nobili, François F; Pietrement, Christine C; Ryckewaert, Amélie A; Salomon, Rémi R; Vrillon, Isabelle I; Blanchard, Anne A; Vargas-Poussou, Rosa R

Publication Date: 2018-02-07

Variant appearance in text: F8: 1337G>A; Arg446His

PubMed Link: 29146702

Variant Present in the following documents:

• Main text

View BVdb publication page

Mutations in intron 1 and intron 22 inversion negative haemophilia A patients from Western India.

Plos One

Nair, Preethi S PS; Shetty, Shrimati D SD; Chandrakala, S S; Ghosh, Kanjaksha K

Publication Date: 2014

Variant appearance in text: FVIII: 1337G>A

PubMed Link: 24845853

Variant Present in the following documents:

• Main text
• pone.0097337.pdf

View BVdb publication page