Varaico: Literature-Extracted Genetic Variants

Gene:C5
Variant:p.L354M
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C5

NM_001735.3:p.L354M

Associated Papers

An ex vivo test to investigate genetic factors conferring susceptibility to atypical haemolytic uremic syndrome.

Gastoldi S et al.

Frontiers in Immunology, 2023

Genetic analysis of four consanguineous multiplex families with inflammatory bowel disease.

Ben-Yosef N et al.

Gastroenterology Report, 2021

Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.

Omoyinmi E et al.

Plos One, 2017

Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.

Ostrowski J et al.

Scientific Reports, 2016

28008999 (PubMed )
Supplement: srep39831-s2.xls › Table_S7

How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.

Middha S et al.

Frontiers in Genetics, 2015

26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2
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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."