A two-exon deletion and hypomorphic missense variant in GEMIN5 causes autosomal recessive ataxia (Homo sapiens)

proteomics_project_reference — a durable, citable reference into the African DSI DataBank's federated catalog.

publicrestrictedorigin: hub

Last updated 9/2/2026, 1:14:54 AM

Cite this record

African DSI DataBank. A two-exon deletion and hypomorphic missense variant in GEMIN5 causes autosomal recessive ataxia (Homo sapiens). AFDSI-PROJREF-389. 2026. https://hub.africandsidatabank.africa/cite/AFDSI-PROJREF-389 Mirrored from data source: PRIDE: https://www.ebi.ac.uk/pride/archive/projects/PXD082880.

BibTeX

@misc{AFDSIPROJREF389,
  title        = {A two-exon deletion and hypomorphic missense variant in GEMIN5 causes autosomal recessive ataxia (Homo sapiens)},
  author       = {{African DSI DataBank}},
  year         = {2026},
  howpublished = {\url{https://hub.africandsidatabank.africa/cite/AFDSI-PROJREF-389}},
  note         = {African DSI DataBank citable identifier AFDSI-PROJREF-389; Mirrored from data source: PRIDE: https://www.ebi.ac.uk/pride/archive/projects/PXD082880}
}

AFDSI-PROJREF-389 is a stable, resolvable local identifier — not a registered DOI. See Terms of use's "Citation policy" for the full explanation.