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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MSH6

Variant:p.N1039_V1051del13

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MSH6

NM_000179.3:p.N1039_V1051del13

hg38:chr2:47801097 TAACTTTGATAAAAATTACAAGGACTGGCAGTCTGCTGTA>T

Associated Papers

Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group.

Morak M et al.

European Journal of Human Genetics : Ejhg, 2022

35676339 (PubMed )

Supplement: 41431_2022_1106_MOESM4_ESM.pdf

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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."