Varaico: Literature-Extracted Genetic Variants

Gene:NRDC
Variant:p.M568fs
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NRDC

NM_001101662.2:p.M568fs

Associated Papers

Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities.

Pehlivan D et al.

American Journal of Human Genetics, 2026

Biallelic Variant in NRDC Gene in Two Siblings With Developmental Delay and Seizures.

Fatehi F et al.

American Journal of Medical Genetics. Part A, 2025

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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."