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You searched for: Date 2020 Author/Creator Ito, Tetsuya

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1. A novel germline BMPR1A variant (c.72_73delGA) in a Japanese family with hereditary mixed polyposis syndrome. (7th May 2020)

2. A novel homozygous variant in MICOS13/QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome. Issue 10 (4th August 2020)

3. Impact of DPYD, DPYS, and UPB1 gene variations on severe drug‐related toxicity in patients with cancer. Issue 9 (20th July 2020)

4. Prevalence and molecular characteristics of DNA mismatch repair deficient endometrial cancer in a Japanese hospital-based population. (26th August 2020)

5. The first case report of polymerase proofreading-associated polyposis in POLD1 variant, c.1433G>A p.S478N, in Japan. (17th June 2020)