Varaico: Literature-Extracted Genetic Variants

Gene:CEP164
Variant:p.K113fs
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CEP164

NM_014956.5:p.K113fs

Associated Papers

Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency.

Schlechter N et al.

Frontiers in Immunology, 2017

Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.

Roberts L et al.

Investigative Ophthalmology & Visual Science, 2016

27898983 (PubMed )
Supplement: iovs-57-14-17_s03.xlsx › 226RetnetDATA2P6M6A0ORout

Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression.

Lasorsa VA et al.

Oncotarget, 2016

27009842 (PubMed )
Supplement: oncotarget-07-21840-s004.xlsx › Supplementary_Table_3a
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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."