Lv3
310 积分 2025-01-11 加入
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Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families
3小时前
待确认
Mutational analysis of promoters of mismatch repair genes hMSH2 and hMLH1 in hereditary nonpolyposis colorectal cancer and early onset colorectal cancer patients: identification of three novel germ-line mutations in promoter of the hMSH2 gene
3小时前
已完结
Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification
11天前
已完结
Acquired Thrombotic Thrombocytopenic Purpura in a 5-Year-old Child With Wiskott-Aldrich Syndrome
9个月前
已完结
The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China
9个月前
已完结
Hereditary Sensory and Autonomic Neuropathy: A Case Series of Six Children
9个月前
已完结
Mutation update on the CHD7 gene involved in CHARGE syndrome
10个月前
已完结
Mutation update on the CHD7 gene involved in CHARGE syndrome
10个月前
已完结
Mutational analysis of patients with 6-pyruvoyltetrahydrobiopterin synthesis deficiency
10个月前
已完结
Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing
10个月前
已完结
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