Identification of pathogenic deep intronic variant and exonic LINE‐1 insertion in a patient with Meckel syndrome.
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| Title: | Identification of pathogenic deep intronic variant and exonic LINE‐1 insertion in a patient with Meckel syndrome. |
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| Authors: | Miyamoto, Sachiko1 (AUTHOR), Nakamura, Kazuyuki2 (AUTHOR), Kato, Mitsuhiro3 (AUTHOR), Nakashima, Mitsuko1 (AUTHOR), Saitsu, Hirotomo1 (AUTHOR) hsaitsu@hama-med.ac.jp |
| Source: | Annals of Human Genetics. Jul2023, Vol. 87 Issue 4, p196-202. 7p. |
| Database: | Academic Search Ultimate |
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| ISSN: | 00034800 |
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| DOI: | 10.1111/ahg.12507 |