Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.I330_S339del0
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MLH1

NM_000249.4:p.I330_S339del0

Associated Papers

Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.

van der Klift HM et al.

Molecular Genetics & Genomic Medicine, 2015

26247049 (PubMed )
Supplement: mgg30003-0327-sd1.docx
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