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Ophthalmic Genetics Volume 44, 2023 - Issue 3
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Case Report

The importance of genome sequencing: unraveling SSBP1 variant missed by exome sequencing

Jae Won Juna Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, KoreaView further author information
,
Yuri Seob Department of Ophthalmology, Yongin Severance Hospital, Yonsei University College of Medicine, Yongin, KoreaView further author information
,
Sueng-Han Hanc Department of Ophthalmology, Severance Hospital, Yonsei University College of Medicine, Seoul, KoreaView further author information
&
Jinu Hana Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, KoreaCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-8607-6625View further author information
ORCID Icon
Pages 286-290 | Received 09 Apr 2022, Accepted 24 Jul 2022, Published online: 10 Aug 2022

References

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