ClinGen Bayesian Framework-Based Interpretation and Functional Validation of a <i>COL10A1</i> Missense Variant in a Patient With Skeletal Dysplasia

Ha-eun Cho, Sojin Yun, Seonbin Seo, Unbeom Shin, Hwa Soo Ko, Man S Kim, Kang Sun Lee, Yoonsung Lee, Kyung Sun Park

Open source

DOI: 10.3343/alm.2026.0419
Published: 2026-11-05
Container: Annals of Laboratory Medicine
Publisher: Annals of Laboratory Medicine
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.3343/alm.2026.0419,
  title = {ClinGen Bayesian Framework-Based Interpretation and Functional Validation of a
                    <i>COL10A1</i>
                    Missense Variant in a Patient With Skeletal Dysplasia},
  author = {Ha-eun Cho and Sojin Yun and Seonbin Seo and Unbeom Shin and Hwa Soo Ko and Man S Kim and Kang Sun Lee and Yoonsung Lee and Kyung Sun Park},
  year = {2026},
  journal = {Annals of Laboratory Medicine},
  doi = {10.3343/alm.2026.0419},
  url = {https://doi.org/10.3343/alm.2026.0419}
}

RIS

TY  - JOUR
TI  - ClinGen Bayesian Framework-Based Interpretation and Functional Validation of a
                    <i>COL10A1</i>
                    Missense Variant in a Patient With Skeletal Dysplasia
AU  - Ha-eun Cho
AU  - Sojin Yun
AU  - Seonbin Seo
AU  - Unbeom Shin
AU  - Hwa Soo Ko
AU  - Man S Kim
AU  - Kang Sun Lee
AU  - Yoonsung Lee
AU  - Kyung Sun Park
PY  - 2026
JO  - Annals of Laboratory Medicine
DO  - 10.3343/alm.2026.0419
UR  - https://doi.org/10.3343/alm.2026.0419
ER  -

APA

Cho, H., Yun, S., Seo, S., Shin, U., Ko, H. S., Kim, M. S., Lee, K. S., Lee, Y., & Park, K. S. (2026). ClinGen Bayesian Framework-Based Interpretation and Functional Validation of a <i>COL10A1</i> Missense Variant in a Patient With Skeletal Dysplasia. Annals of Laboratory Medicine. https://doi.org/10.3343/alm.2026.0419

Source records

crossref · retrieved 2026-11-08T17:49:15.324Z