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Article

Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.

American journal of medical genetics. Part A - 1 Jul 2024

Ezell Kimberly M, Tinker Rory J, Furuta Yutaka, Gulsevin Alican, Bastarache Lisa, Hamid Rizwan, Cogan Joy D, Rives Lynette, Neumann Serena, Corner Brian, Kozuria Mary, Phillips John A

Abstract excerpt

The Undiagnosed Disease Network (UDN) is comprised of clinical and research experts collaborating to diagnose rare disease. The UDN is funded by the National Institutes of Health and includes 12 different clinical sites (About Us, 2022). Here we highlight the success of collaborative efforts within the UDN Clinical Site at Vanderbilt University Medical Center (VUMC) in utilizing a cohort of experts in...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38511854
DOI: 10.1002/ajmg.a.63597
PMCID: PMC11161305

Genes

CACNA1D

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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