Varaico: Literature-Extracted Genetic Variants

Gene:COQ8B
Variant:p.E447K
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COQ8B

NM_024876.4:p.E447K

Associated Papers

A renal cell carcinoma tumorgraft platform to advance precision medicine.

Elias R et al.

Cell Reports, 2021

34818533 (PubMed )
Supplement: NIHMS1761779-supplement-Table_S8.xlsx › Sheet1

Steroid-resistant nephrotic syndrome caused by co-inheritance of mutations at NPHS1 and ADCK4 genes in two Chinese siblings.

Zhang H et al.

Intractable & Rare Diseases Research, 2017

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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."