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Article

A Rare Missense Variant in TNPO2 in an Individual With a Neurodevelopmental Disability.

American journal of medical genetics. Part A - 1 Apr 2026

Cohen Ryan, Ganapathi Mythily, Ziegler Alban, Geltzeiler Alexa, Chung Wendy K

Abstract excerpt

We report an 87-year-old female with a history of intellectual disability, severe speech impairment and behavioral issues. She was globally delayed in childhood. In adolescence, she had hallucinations, behavioral issues and was institutionalized. Her behavioral issues were treated, and her medical and behavioral course was stable until her 80's when she began to decline cognitively. She died at age 87. Exome...

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Share to Mutation, Missense
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41311105
DOI: 10.1002/ajmga.70000

Genes

TNPO2
CA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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