Varaico: Literature-Extracted Genetic Variants

Gene:NID1
Variant:p.Q388*
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NID1

NM_002508.3:p.Q388*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

NID1-related autosomal dominant Dandy-Walker malformation with occipital cephalocele in three generations.

Dietvorst S et al.

European Journal of Medical Genetics, 2023

NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes.

McNiven V et al.

American Journal of Medical Genetics. Part A, 2019

Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles.

Darbro BW et al.

Human Mutation, 2013

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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."