Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.I135L
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PTEN

NM_000314.8:p.I135L

Associated Papers

BDNF- Dysregulation as a Neurobiological Bridge between Polycystic Ovarian Syndrome and Autism Spectrum Disorder.

Nautiyal H et al.

Acs Chemical Neuroscience, 2026

PTEN variant and genetic backgrounds combine to modify cerebellar neuronal differentiation in autism spectrum disorder.

Chen Y et al.

Human Molecular Genetics, 2026

Molecular and Genetic Mechanisms in Autism Spectrum Disorder.

Pruitt A et al.

Annals of Neurology, 2025

Autism risk genes converge on PBX1 to govern neural cell growth.

Fu S et al.

Biorxiv : the Preprint Server for Biology, 2025

Classification of PTEN germline non-truncating variants: a new approach to interpretation.

Margot H et al.

Journal of Medical Genetics, 2024

Neuronal lineage tracing from progenitors in human cortical organoids reveals mechanisms of neuronal production, diversity, and disease.

Bury LAD et al.

Cell Reports, 2024

Cerebellar phenotypes in germline PTEN mutation carriers.

Gambini D et al.

Neuropathology and Applied Neurobiology, 2024

Identification of novel NRF2-dependent genes as regulators of lead and arsenic toxicity in neural progenitor cells.

Park HR et al.

Journal of Hazardous Materials, 2024

Cell-type specific defects in PTEN-mutant cortical organoids converge on abnormal circuit activity.

Pigoni M et al.

Human Molecular Genetics, 2023

Toward a better understanding of PHTS heterogeneity: commentary on 'Cell-type specific deficits in PTEN-mutant cortical organoids converge on abnormal circuit activity'.

Tan Z et al.

Human Molecular Genetics, 2023

Neuronal lineage tracing from progenitors in human cortical organoids reveals novel mechanisms of human neuronal production, diversity, and disease.

Bury LAD et al.

Biorxiv : the Preprint Server for Biology, 2023

Autism-specific PTEN p.Ile135Leu variant and an autism genetic background combine to dysregulate cortical neurogenesis.

Fu S et al.

American Journal of Human Genetics, 2023

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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."