Varaico: Literature-Extracted Genetic Variants

Gene:ERCC8
Variant:p.R99Fs
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ERCC8

NM_000082.4:p.R99Fs

Associated Papers

Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.

Duerinckx S et al.

Molecular Genetics & Genomic Medicine, 2021

Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways.

Duerinckx S et al.

Human Mutation, 2020

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.

Rump P et al.

Bmc Medical Genomics, 2016

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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."