Varaico: Literature-Extracted Genetic Variants

Gene:PDHX
Variant:p.L449delFs
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PDHX

NM_003477.3:p.L449delFs

Associated Papers

Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.

Wilson YA et al.

Journal of Child Neurology, 2024

39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4

Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders.

Santana Almansa A et al.

Annals of Clinical and Translational Neurology, 2024

Mendelian etiologies identified with whole exome sequencing in cerebral palsy.

Chopra M et al.

Annals of Clinical and Translational Neurology, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."