Clinical and molecular expansion of SSR4-CDG: an adult patient and pathogenic interpretation of an in-frame variant.
- DOI
- 10.1038/s10038-026-01493-8
- Published
- 2026 Oct
- Container
- Journal of human genetics
- Publisher
- Not recorded
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1038/s10038-026-01493-8,
title = {Clinical and molecular expansion of SSR4-CDG: an adult patient and pathogenic interpretation of an in-frame variant.},
author = {Yoshimura A and Azuma Y and Hamada K and Nakama M and Sakai Y and Kajiwara K and Yamashita H and Baba S and Koshimizu E and Miyatake S and Ogata K and Wada Y and Matsumoto N and Okamoto N},
year = {2026},
journal = {Journal of human genetics},
doi = {10.1038/s10038-026-01493-8},
url = {https://doi.org/10.1038/s10038-026-01493-8}
}RIS
TY - JOUR TI - Clinical and molecular expansion of SSR4-CDG: an adult patient and pathogenic interpretation of an in-frame variant. AU - Yoshimura A AU - Azuma Y AU - Hamada K AU - Nakama M AU - Sakai Y AU - Kajiwara K AU - Yamashita H AU - Baba S AU - Koshimizu E AU - Miyatake S AU - Ogata K AU - Wada Y AU - Matsumoto N AU - Okamoto N PY - 2026 JO - Journal of human genetics DO - 10.1038/s10038-026-01493-8 UR - https://doi.org/10.1038/s10038-026-01493-8 ER -
APA
A, Y., Y, A., K, H., M, N., Y, S., K, K., H, Y., S, B., E, K., S, M., K, O., Y, W., N, M., & N, O. (2026). Clinical and molecular expansion of SSR4-CDG: an adult patient and pathogenic interpretation of an in-frame variant.. Journal of human genetics. https://doi.org/10.1038/s10038-026-01493-8
Source records
- pubmed · retrieved 2026-09-26T00:41:58.905Z