Varaico: Literature-Extracted Genetic Variants

Gene:NRROS
Variant:p.L661delFs
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NRROS

NM_198565.3:p.L661delFs

Associated Papers

Expanding the Phenotype of NRROS -Related SENEBAC Syndrome.

Srinivasan VM et al.

American Journal of Medical Genetics. Part A, 2025

Neurodegeneration, Intracranial Calcifications, Microcephaly and Drug-Resistant Epilepsy Caused by a Novel Homozygous Missense Variant in the NRROS Gene: A Case Report.

Al-Omari MA

International Medical Case Reports Journal, 2025

Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.

Scheffer IE et al.

Developmental Medicine and Child Neurology, 2023

Delineating the epilepsy phenotype of NRROS-related microgliopathy: A case report and literature review.

Madaan P et al.

Seizure, 2022

Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration.

Macintosh J et al.

Neurogenetics, 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."