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  • × Single nucleotide variant
 全选  【符合条件的数据共：21条】

1 Tracking the molecular evolution and transmission patterns of SARS-CoV-2 lineage B.1.466.2 in Indonesia based on genomic surveillance data [期刊论文]

来源：Virology Journal , 2022

作者:Joanna Weihui Tan;Holie Frendy;Bryanna Infinita Laviashna Saputro;等

关键词:Severe acute respiratory syndrome coronavirus 2;B.1.466.2 variant;...

使用许可:Unknown

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2 Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients [期刊论文]

来源：Genome Medicine , 2021

作者:Ulrika von Döbeln;Mikael Oscarson;Michela Barbaro;等

关键词:Whole genome sequencing;Monogenic disease;...

使用许可:CC BY

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3 Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder [期刊论文]

来源：Molecular Autism , 2021

作者:Christina M. Hultman;Bernie Devlin;Lambertus Klei;等

关键词:Autism spectrum disorder;Copy number variant;...

使用许可:Unknown

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4 Association of TERT and DSP variants with microscopic polyangiitis and myeloperoxidase-ANCA positive vasculitis in a Japanese population: a genetic association study [期刊论文]

来源：Arthritis Research & Therapy , 2020

作者:Naoto Tamura;Makio Kusaoi;Takayuki Sumida;等

关键词:Myeloperoxidase-ANCA;Vasculitis;...

使用许可:CC BY

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5 Association of TERT and DSP variants with microscopic polyangiitis and myeloperoxidase-ANCA positive vasculitis in a Japanese population: a genetic association study [期刊论文]

来源：Arthritis Research & Therapy , 2020

作者:Naoto Tamura;Makio Kusaoi;Takayuki Sumida;等

关键词:Myeloperoxidase-ANCA;Vasculitis;...

使用许可:CC BY

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6 A low-frequency IL4R locus variant in Japanese patients with intravenous immunoglobulin therapy-unresponsive Kawasaki disease [期刊论文]

来源：Pediatric Rheumatology , 2019

作者:Toshikazu Takeshita;Kazuhisa Yoshino;Yuji Amano;等

关键词:Kawasaki disease;Interleukin-4 receptor;...

使用许可:CC BY

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