From a novel pathogenic SAMD9L variant to cohort-wide insights: Whole-genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity.
- DOI
- 10.1111/bjh.70563
- Published
- 2026 Jul
- Container
- British journal of haematology
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.1111/bjh.70563,
title = {From a novel pathogenic SAMD9L variant to cohort-wide insights: Whole-genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity.},
author = {Dellal H and Klifa R and Larcher L and Passet M and Celse T and Gouas L and Tusseau M and AURAGEN Consortium and Praga A and Bernard V and Fusaro M},
year = {2026},
journal = {British journal of haematology},
doi = {10.1111/bjh.70563},
url = {https://doi.org/10.1111/bjh.70563}
}RIS
TY - JOUR TI - From a novel pathogenic SAMD9L variant to cohort-wide insights: Whole-genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity. AU - Dellal H AU - Klifa R AU - Larcher L AU - Passet M AU - Celse T AU - Gouas L AU - Tusseau M AU - AURAGEN Consortium AU - Praga A AU - Bernard V AU - Fusaro M PY - 2026 JO - British journal of haematology DO - 10.1111/bjh.70563 UR - https://doi.org/10.1111/bjh.70563 ER -
APA
H, D., R, K., L, L., M, P., T, C., L, G., M, T., Consortium, A., A, P., V, B., & M, F. (2026). From a novel pathogenic SAMD9L variant to cohort-wide insights: Whole-genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity.. British journal of haematology. https://doi.org/10.1111/bjh.70563
Source records
- pubmed · retrieved 2026-09-27T16:27:15.050Z