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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KLHL40

Variant:p.V101M

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KLHL40

NM_152393.4:p.V101M

hg38:chr3:42685919 G>A

Associated Papers

Combining Gene Mutation with Expression of Candidate Genes to Improve Diagnosis of Escobar Syndrome.

Najjar D et al.

Genes, 2022

36292632 (PubMed )

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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."