Varaico: Literature-Extracted Genetic Variants

Gene:NRDC
Variant:p.L244W
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NRDC

NM_001101662.2:p.L244W

Associated Papers

The curious case of a heterozygous loss-of-function PSEN1 variant associated with early-onset Alzheimer's disease.

Sanjuan-Ruiz I et al.

Molecular Neurodegeneration Advances, 2025

41127441 (PubMed )
Supplement: 44477_2025_4_MOESM2_ESM.xlsx › Sheet1

Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.

Viggiano M et al.

Npj Genomic Medicine, 2024

38519481 (PubMed )
Supplement: 41525_2024_411_MOESM1_ESM.pdf
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