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Article

Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature.

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

Bhola Priya T, Mishra Radha, Posey Jennifer E, Hamilton Leslie E, Graham Gail E, Punetha Jaya, Lupski James R, Boycott Kym M, D'Amours Damien, Kernohan Kristin D

Abstract excerpt

Our understanding of genetic and phenotypic heterogeneity associated with the clinical spectrum of rare diseases continues to expand. Thorough phenotypic descriptions and model organism functional studies are valuable tools in dissecting the biology of the disease process. Kinesin genes are well known to be associated with specific disease phenotypes and a subset of kinesin genes, including KIF21A, have been...

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PMID: 37921537
DOI: 10.1002/ajmg.a.63455

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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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