Varaico: Literature-Extracted Genetic Variants

Gene:TAOK2
Variant:p.L167R
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TAOK2

NM_016151.4:p.L167R

Associated Papers

Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders.

Cavalli A et al.

Bmc Medical Genomics, 2024

38443934 (PubMed )
Supplement: 12920_2024_1840_MOESM1_ESM.xlsx › Foglio1

Genotype-Phenotype Correlations in Relation to Newly Emerging Monogenic Forms of Autism Spectrum Disorder and Associated Neurodevelopmental Disorders: The Importance of Phenotype Reevaluation after Pangenomic Results.

Lintas C et al.

Journal of Clinical Medicine, 2021

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