Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2014 | 1 |
2016 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 375748
2 results
Results by year
Filters applied: . Clear all
Page 1
A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly.
J Exp Med. 2016 May 30;213(6):1011-28. doi: 10.1084/jem.20151183. Epub 2016 May 16.
J Exp Med. 2016.
PMID: 27185855
Free PMC article.
ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.
Tummala H, Kirwan M, Walne AJ, Hossain U, Jackson N, Pondarre C, Plagnol V, Vulliamy T, Dokal I.
Tummala H, et al.
Am J Hum Genet. 2014 Feb 6;94(2):246-56. doi: 10.1016/j.ajhg.2014.01.007.
Am J Hum Genet. 2014.
PMID: 24507776
Free PMC article.
Item in Clipboard
Cite
Cite