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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2020 | 2 |
2023 | 2 |
2024 | 0 |
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Page 1
The functional impact of 1,570 individual amino acid substitutions in human OTC.
Am J Hum Genet. 2023 May 4;110(5):863-879. doi: 10.1016/j.ajhg.2023.03.019.
Am J Hum Genet. 2023.
PMID: 37146589
Free PMC article.
A yeast-based complementation assay elucidates the functional impact of 200 missense variants in human PSAT1.
Sirr A, Lo RS, Cromie GA, Scott AC, Ashmead J, Heyesus M, Dudley AM.
Sirr A, et al.
J Inherit Metab Dis. 2020 Jul;43(4):758-769. doi: 10.1002/jimd.12227. Epub 2020 Feb 27.
J Inherit Metab Dis. 2020.
PMID: 32077105
Free PMC article.
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Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes.
Xie MJ, Cromie GA, Owens K, Timour MS, Tang M, Kutz JN, El-Hattab AW, McLaughlin RN Jr, Dudley AM.
Xie MJ, et al.
PLoS Genet. 2023 Oct 9;19(10):e1010972. doi: 10.1371/journal.pgen.1010972. eCollection 2023 Oct.
PLoS Genet. 2023.
PMID: 37812589
Free PMC article.
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Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.
Maddirevula S, Shamseldin HE, Sirr A, AlAbdi L, Lo RS, Ewida N, Al-Qahtani M, Hashem M, Abdulwahab F, Aboyousef O, Kaya N, Monies D, Salem MH, Al Harbi N, Aldhalaan HM, Alzaidan H, Almanea HM, Alsalamah AK, Al Mutairi F, Ismail S, Abdel-Salam GMH, Alhashem A, Asery A, Faqeih E, AlQassmi A, Al-Hamoudi W, Algoufi T, Shagrani M, Dudley AM, Alkuraya FS.
Maddirevula S, et al.
Front Genet. 2020 Dec 31;11:580484. doi: 10.3389/fgene.2020.580484. eCollection 2020.
Front Genet. 2020.
PMID: 33456446
Free PMC article.
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