Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants.
In: Human Genomics, Jg. 18 (2024-02-27), Heft 1
academicJournal
Zugriff:
Titel: |
Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants.
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Autor/in / Beteiligte Person: | Wu, Hao ; Lin, Jin-Huan ; Tang, Xin-Ying ; Marenne, Gaëlle ; Zou, Wen-Bin ; Schutz, Sacha ; Masson, Emmanuelle ; Génin, Emmanuelle ; Fichou, Yann ; Le Gac, Gerald ; Férec, Claude ; Liao, Zhuan ; Chen, Jian-Min |
Zeitschrift: | Human Genomics, Jg. 18 (2024-02-27), Heft 1 |
Veröffentlichung: | 2024 |
Medientyp: | academicJournal |
DOI: | 10.1186/s40246-024-00586-9 |
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