NOTCH2 VUS Interpretation in Pediatric Cholestasis: A 365-Variant Landscape and Genotype-Phenotype Analysis of 7 Cases.

Hoskins BJ, Pramparo T, Vandriel SM, Jarasvaraparn C, Wilsey MJ, Slowik V, Kunam L, Stoll JM, Quiros-Tejeira RE, Lam S, Karnsakul W

Open source

DOI: 10.3390/genes17101259
Published: 2026 Oct 11
Container: Genes
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.3390/genes17101259,
  title = {NOTCH2 VUS Interpretation in Pediatric Cholestasis: A 365-Variant Landscape and Genotype-Phenotype Analysis of 7 Cases.},
  author = {Hoskins BJ and Pramparo T and Vandriel SM and Jarasvaraparn C and Wilsey MJ and Slowik V and Kunam L and Stoll JM and Quiros-Tejeira RE and Lam S and Karnsakul W},
  year = {2026},
  journal = {Genes},
  doi = {10.3390/genes17101259},
  url = {https://doi.org/10.3390/genes17101259}
}

RIS

TY  - JOUR
TI  - NOTCH2 VUS Interpretation in Pediatric Cholestasis: A 365-Variant Landscape and Genotype-Phenotype Analysis of 7 Cases.
AU  - Hoskins BJ
AU  - Pramparo T
AU  - Vandriel SM
AU  - Jarasvaraparn C
AU  - Wilsey MJ
AU  - Slowik V
AU  - Kunam L
AU  - Stoll JM
AU  - Quiros-Tejeira RE
AU  - Lam S
AU  - Karnsakul W
PY  - 2026
JO  - Genes
DO  - 10.3390/genes17101259
UR  - https://doi.org/10.3390/genes17101259
ER  -

APA

BJ, H., T, P., SM, V., C, J., MJ, W., V, S., L, K., JM, S., RE, Q., S, L., & W, K. (2026). NOTCH2 VUS Interpretation in Pediatric Cholestasis: A 365-Variant Landscape and Genotype-Phenotype Analysis of 7 Cases.. Genes. https://doi.org/10.3390/genes17101259

Source records

pubmed · retrieved 2026-11-10T12:37:31.296Z