CREBBP c.5029G>A ;(p.E1677K)

Variant ID: 16-3781336-C-T

NM_004380.2(CREBBP):c.5029G>A;(p.E1677K)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

Molecular Genetics & Genomic Medicine
Tran Mau-Them, Frederic F; Duffourd, Yannis Y; Vitobello, Antonio A; Bruel, Ange-Line AL; Denommé-Pichon, Anne-Sophie AS; Nambot, Sophie S; Delanne, Julian J; Moutton, Sebastien S; Sorlin, Arthur A; , ; Couturier, Victor V; Bourgeois, Valentin V; Chevarin, Martin M; Poe, Charlotte C; Mosca-Boidron, Anne-Laure AL; Callier, Patrick P; Safraou, Hana H; Faivre, Laurence L; Philippe, Christophe C; Thauvin-Robinet, Christel C
Publication Date: 2021-12

Variant appearance in text: CREBBP: 5029G>A; Glu1677Lys
PubMed Link: 34716697
Variant Present in the following documents:
  • MGG3-9-e1836-s002.xlsx, sheet 1
View BVdb publication page



Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

Molecular Genetics & Genomic Medicine
Tran Mau-Them, Frederic F; Duffourd, Yannis Y; Vitobello, Antonio A; Bruel, Ange-Line AL; Denommé-Pichon, Anne-Sophie AS; Nambot, Sophie S; Delanne, Julian J; Moutton, Sebastien S; Sorlin, Arthur A; , ; Couturier, Victor V; Bourgeois, Valentin V; Chevarin, Martin M; Poe, Charlotte C; Mosca-Boidron, Anne-Laure AL; Callier, Patrick P; Safraou, Hana H; Faivre, Laurence L; Philippe, Christophe C; Thauvin-Robinet, Christel C
Publication Date: 2021-10-30

Variant appearance in text: CREBBP: 5029G>A; Glu1677Lys
PubMed Link: 34716697
Variant Present in the following documents:
  • MGG3-9-e1836-s002.xlsx, sheet 1
View BVdb publication page