Varaico: Literature-Extracted Genetic Variants

Gene:NRROS
Variant:p.Q593*
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NRROS

NM_198565.3:p.Q593*

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

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

Macintosh J et al.

Neurogenetics, 2022

Biallelic mutations in NRROS cause an early onset lethal microgliopathy.

Smith C et al.

Acta Neuropathologica, 2020

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