Varaico: Literature-Extracted Genetic Variants

Gene:NEUROG1
Variant:p.R116L
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NEUROG1

NM_006161.3:p.R116L

Associated Papers

A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case report.

Sheth F et al.

Bmc Neurology, 2023

Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders.

Dupont J et al.

Clinical Genetics, 2021

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.

Yavarna T et al.

Human Genetics, 2015

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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."