Varaico: Literature-Extracted Genetic Variants

Gene:NRROS
Variant:p.L64delFs
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NRROS

NM_198565.3:p.L64delFs

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

The genomic landscape of pediatric myelodysplastic syndromes.

Schwartz JR et al.

Nature Communications, 2017

29146900 (PubMed )
Supplement: 41467_2017_1590_MOESM13_ESM.xlsx › Sup._T10_-_LOF_GL_Exomes
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