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Article

Large in-frame intragenic deletion of OPHN1 in a male patient with a normal intelligence quotient score.

Clinical dysmorphology - 1 Jan 2017

Busa Tiffany, Caietta Emilie, Chabrol Brigitte, Girard Nadine, Philip Nicole, Missirian Chantal

Abstract excerpt

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Topics

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Share to Chromosome Deletion
Share to Chromosomes, Human, X
Share to Comparative Genomic Hybridization
Share to Cytoskeletal Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GTPase-Activating Proteins

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Source

Identifiers

PMID: 27390894
DOI: 10.1097/MCD.0000000000000139

Genes

OPHN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

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Large in-frame intragenic deletion of OPHN1 in a male patient with a normal intelligence quotient score.PMID 27390894Read ↗

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