Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.

Lopez-Perolio I, Leman R, Behar R, Lattimore V, Pearson JF, Castéra L, Martins A, Vaur D, Goardon N, Davy G, Garre P, García-Barberán V, Llovet P, Pérez-Segura P, Díaz-Rubio E, Caldés T, Hruska KS, Hsuan V, Wu S, Pesaran T, Karam R, Vallon-Christersson J, Borg A, kConFab Investigators, Valenzuela-Palomo A, Velasco EA, Southey M, Vreeswijk MPG, Devilee P, Kvist A, Spurdle AB, Walker LC, Krieger S, de la Hoya M

Open source

DOI: 10.1136/jmedgenet-2018-105834
Published: 2019 Jul
Container: Journal of medical genetics
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1136/jmedgenet-2018-105834,
  title = {Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.},
  author = {Lopez-Perolio I and Leman R and Behar R and Lattimore V and Pearson JF and Castéra L and Martins A and Vaur D and Goardon N and Davy G and Garre P and García-Barberán V and Llovet P and Pérez-Segura P and Díaz-Rubio E and Caldés T and Hruska KS and Hsuan V and Wu S and Pesaran T and Karam R and Vallon-Christersson J and Borg A and kConFab Investigators and Valenzuela-Palomo A and Velasco EA and Southey M and Vreeswijk MPG and Devilee P and Kvist A and Spurdle AB and Walker LC and Krieger S and de la Hoya M},
  year = {2019},
  journal = {Journal of medical genetics},
  doi = {10.1136/jmedgenet-2018-105834},
  url = {https://doi.org/10.1136/jmedgenet-2018-105834}
}

RIS

TY  - JOUR
TI  - Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.
AU  - Lopez-Perolio I
AU  - Leman R
AU  - Behar R
AU  - Lattimore V
AU  - Pearson JF
AU  - Castéra L
AU  - Martins A
AU  - Vaur D
AU  - Goardon N
AU  - Davy G
AU  - Garre P
AU  - García-Barberán V
AU  - Llovet P
AU  - Pérez-Segura P
AU  - Díaz-Rubio E
AU  - Caldés T
AU  - Hruska KS
AU  - Hsuan V
AU  - Wu S
AU  - Pesaran T
AU  - Karam R
AU  - Vallon-Christersson J
AU  - Borg A
AU  - kConFab Investigators
AU  - Valenzuela-Palomo A
AU  - Velasco EA
AU  - Southey M
AU  - Vreeswijk MPG
AU  - Devilee P
AU  - Kvist A
AU  - Spurdle AB
AU  - Walker LC
AU  - Krieger S
AU  - de la Hoya M
PY  - 2019
JO  - Journal of medical genetics
DO  - 10.1136/jmedgenet-2018-105834
UR  - https://doi.org/10.1136/jmedgenet-2018-105834
ER  -

APA

I, L., R, L., R, B., V, L., JF, P., L, C., A, M., D, V., N, G., G, D., P, G., V, G., P, L., P, P., E, D., T, C., KS, H., V, H., S, W., T, P., R, K., J, V., A, B., Investigators, K., A, V., EA, V., M, S., MPG, V., P, D., A, K., AB, S., LC, W., S, K., & M, D. L. H. (2019). Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.. Journal of medical genetics. https://doi.org/10.1136/jmedgenet-2018-105834

Source records

pubmed · retrieved 2026-09-25T23:13:38.090Z