Mutation profiles, laboratory, and clinical data of for patients with PC deficiency.
收藏Figshare2015-12-02 更新2026-04-29 收录
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https://figshare.com/articles/dataset/_Mutation_profiles_laboratory_and_clinical_data_of_for_patients_with_PC_deficiency_/320219
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Mutations were designated according to the HGVS nomenclature for variants, comparing with the NCBI Reference Sequences NM_000312.3 and NP_000303.1. Patients with two nucleotide substitutions indicated compound heterozygotes. NT = nucleotide. AA = amino acid. Ref. = References. DVT = deep vein thrombosis. MVT = mesenteric vein thrombosis. PE = pulmonary embolism. AIS = acute ischemic stroke.
创建时间：
2015-12-02
