Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease-Causing Variants in TCOF1 and POLR1D.
publication — a durable, citable reference into the African DSI DataBank's federated catalog.
publicrestrictedorigin: hubLast updated 9/9/2026, 12:54:36 AM
Cite this record
African DSI DataBank. Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease-Causing Variants in TCOF1 and POLR1D.. AFDSI-PUB-997. 2026. https://hub.africandsidatabank.africa/cite/AFDSI-PUB-997 Mirrored from data source: PubMed: https://pubmed.ncbi.nlm.nih.gov/42706666/.
BibTeX
@misc{AFDSIPUB997,
title = {Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease-Causing Variants in TCOF1 and POLR1D.},
author = {{African DSI DataBank}},
year = {2026},
howpublished = {\url{https://hub.africandsidatabank.africa/cite/AFDSI-PUB-997}},
note = {African DSI DataBank citable identifier AFDSI-PUB-997; Mirrored from data source: PubMed: https://pubmed.ncbi.nlm.nih.gov/42706666/}
}AFDSI-PUB-997 is a stable, resolvable local identifier — not a registered DOI. See Terms of use's "Citation policy" for the full explanation.
