Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia.
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ABSTRACT:
SUBMITTER: Gholami Yarahmadi S
PROVIDER: S-EPMC8905136 | biostudies-literature | 2022 Mar
REPOSITORIES: biostudies-literature
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Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia.
Gholami Yarahmadi Sepideh S Sarlaki Fatemeh F Morovvati Saeid S
Clinical case reports 20220308 3
This investigation revealed a homozygous c.5069-1G>C variation in TENM3 gene although has not been reported for its pathogenicity and can be considered as a novel mutation. The present finding can be used for genetic diagnosis and detection of carriers in the family and other patients with similar disease manifestations. ...[more]
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