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Year | Number of Results |
---|---|
2019 | 1 |
2022 | 1 |
2023 | 1 |
2024 | 0 |
PubMed for id: 105371045
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Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy.
Hum Genet. 2023 May;142(5):691-696. doi: 10.1007/s00439-022-02486-1. Epub 2022 Sep 9.
Hum Genet. 2023.
PMID: 36076104
Free PMC article.
Noncoding deletions reveal a gene that is critical for intestinal function.
Oz-Levi D, Olender T, Bar-Joseph I, Zhu Y, Marek-Yagel D, Barozzi I, Osterwalder M, Alkelai A, Ruzzo EK, Han Y, Vos ESM, Reznik-Wolf H, Hartman C, Shamir R, Weiss B, Shapiro R, Pode-Shakked B, Tatarskyy P, Milgrom R, Schvimer M, Barshack I, Imai DM, Coleman-Derr D, Dickel DE, Nord AS, Afzal V, van Bueren KL, Barnes RM, Black BL, Mayhew CN, Kuhar MF, Pitstick A, Tekman M, Stanescu HC, Wells JM, Kleta R, de Laat W, Goldstein DB, Pras E, Visel A, Lancet D, Anikster Y, Pennacchio LA.
Oz-Levi D, et al.
Nature. 2019 Jul;571(7763):107-111. doi: 10.1038/s41586-019-1312-2. Epub 2019 Jun 19.
Nature. 2019.
PMID: 31217582
Free PMC article.
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