Varaico: Literature-Extracted Genetic Variants

Gene:NXNL1
Variant:p.E154V
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NXNL1

NM_138454.2:p.E154V

Associated Papers

A synergetic effect of BARD1 mutations on tumorigenesis.

Li W et al.

Nature Communications, 2021

33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers.

Shankar SP et al.

Investigative Ophthalmology & Visual Science, 2016

An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation.

Preeprem T et al.

Biodata Mining, 2013

24365473 (PubMed )
Supplement: 1756-0381-6-24-S2.xlsx › Additional_Table_7
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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."