Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.K443R
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MLH1

NM_000249.4:p.K443R

Associated Papers

Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.

Tan M et al.

Frontiers in Genetics, 2022

35910219 (PubMed )
Supplement: DataSheet1.xlsx › Table_S7

TAPES: A tool for assessment and prioritisation in exome studies.

Xavier A et al.

Plos Computational Biology, 2019

31613886 (PubMed )
Supplement: pcbi.1007453.s002.xlsx › SoftVsPanel
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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."