Varaico: Literature-Extracted Genetic Variants

Gene:MYO5B
Variant:p.R344H
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MYO5B

NM_001080467.3:p.R344H

Associated Papers

metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes.

Graham Linck EJ et al.

Npj Genomic Medicine, 2020

32637154 (PubMed )
Supplement: 41525_2020_132_MOESM1_ESM.pdf

Increased burden of rare deleterious variants of the KCNQ1 gene in patients with large‑vessel ischemic stroke.

Janicki PK et al.

Molecular Medicine Reports, 2019

30816480 (PubMed )
Supplement: supplement_2.pdf

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

Di Fruscio G et al.

Autophagy, 2015

26075876 (PubMed )
Supplement: kaup-11-06-1043077-s001.zip › 1043077_supplemental_files › TABLE_S6.xlsx › results
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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."