Varaico: Literature-Extracted Genetic Variants

Gene:TRIO
Variant:p.N1465S
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TRIO

NM_007118.4:p.N1465S

Associated Papers

Investigation of Genetic Aetiology in Intellectual Developmental Disorder with Trio-Whole Exome Sequencing Approach.

Gorker I et al.

Noro Psikiyatri Arsivi, 2026

[Clinical characteristics and genetic analysis of mental retardation disorder with TRIO gene variant].

Tian XJ et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2024

Improvement of variant reclassification in genetic neurodevelopmental conditions.

Kowanda M et al.

Genetics in Medicine Open, 2024

39669614 (PubMed )
Supplement: mmc2.xlsx › Classification_criteria_applied

Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.

Gazdagh G et al.

American Journal of Medical Genetics. Part A, 2023

Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity.

Mercan S et al.

Genes & Genomics, 2023

Rare coding variants in ten genes confer substantial risk for schizophrenia.

Singh T et al.

Nature, 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."