Identification of pathogenic deep intronic variant and exonic LINE‐1 insertion in a patient with Meckel syndrome.

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Bibliographic Details
Title: Identification of pathogenic deep intronic variant and exonic LINE‐1 insertion in a patient with Meckel syndrome.
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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Description
ISSN:00034800
DOI:10.1111/ahg.12507