Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome.

Vanlerberghe C, Jourdain AS, Frenois F, Ait-Yahya E, Bamshad M, Dieux A, Dufour W, Leduc F, Manouvrier-Hanu S, Patterson K, Ghoumid J, Escande F, Smol T, Brunelle P, Petit F

Open source

DOI
10.1016/j.gim.2024.101267
Published
2024 Dec
Container
Genetics in medicine : official journal of the American College of Medical Genetics
Publisher
Not recorded
Open access
unknown

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BibTeX

@article{allodium:10.1016/j.gim.2024.101267,
  title = {Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome.},
  author = {Vanlerberghe C and Jourdain AS and Frenois F and Ait-Yahya E and Bamshad M and Dieux A and Dufour W and Leduc F and Manouvrier-Hanu S and Patterson K and Ghoumid J and Escande F and Smol T and Brunelle P and Petit F},
  year = {2024},
  journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
  doi = {10.1016/j.gim.2024.101267},
  url = {https://doi.org/10.1016/j.gim.2024.101267}
}

RIS

TY  - JOUR
TI  - Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome.
AU  - Vanlerberghe C
AU  - Jourdain AS
AU  - Frenois F
AU  - Ait-Yahya E
AU  - Bamshad M
AU  - Dieux A
AU  - Dufour W
AU  - Leduc F
AU  - Manouvrier-Hanu S
AU  - Patterson K
AU  - Ghoumid J
AU  - Escande F
AU  - Smol T
AU  - Brunelle P
AU  - Petit F
PY  - 2024
JO  - Genetics in medicine : official journal of the American College of Medical Genetics
DO  - 10.1016/j.gim.2024.101267
UR  - https://doi.org/10.1016/j.gim.2024.101267
ER  - 

APA

C, V., AS, J., F, F., E, A., M, B., A, D., W, D., F, L., S, M., K, P., J, G., F, E., T, S., P, B., & F, P. (2024). Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome.. Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1016/j.gim.2024.101267

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