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最新遗传性反复发热基因诊断指南 - 爱爱医医学网

[图文] (http://www.hgvs.org/mutnomen/)。 2) 无论何时,序列突变名称因起始密码子重编号码而发生改变,都应该报告标准命名和HGSV命名,以允许咨询的临床医师找到相关资...
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Buccal Swab - an overview | ScienceDirect Topics

[图文] according to gene nomenclature guidelines ( www.hgvs.org/mutnomen ). The protein initiation codon is codon 1 ( Kaplan et al ., 2009b; Shore et al .,
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[图文] A standard gene variant nomenclature ( http://www.hgvs.org/mutnomen ) is maintained and versioned by the Human Genome Variation Society (HGVS), and it
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假肥肌营养不良,检查结果是良性还是恶性 - 快速问医生

[图文] (http://www.hgvs.org/mutnomen/index.html)。 3.4.3蛋白质序列变异术语规范 蛋白质序列改变通常以单个字母或三个字母(第一个字母大写)来描述。尽管单个字母描述氨基...
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新生儿筛查瓜氨酸高 - 名医汇

(http://www.hgvs.org/mutnomen/)] SLC25A13(NM_014251.2) Exon4: c.254T>C; p.(Leu85Pro) 杂合,临床意义未明,遗传自母亲。 喂养困难,孩子出生后喝母乳会经常胀气,大...
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ATHEROSCLEROSIS

authors should use the recommendations of the HGVS:  http://www.hgvs.org/mutnomen/ . Tools such as the Mutalyzer software maybe used to assist with this www.mutalyzer.nl All
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IL2RG基因新突变致X-连锁重症联合免疫缺陷病二例及产前诊断研究....

体制http://www.hgvs.org/mutnomen提供的命名法 来命名。 CAAAAAAAGGACATCC 4.产前诊断:明确先证者母亲的X.SCID基因 突变后,对家系l高危孕妇行产前诊断,提取胎儿绒 ...
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 for cystic fibrosis 

with numbering starting at the A of the ATG initiation codon according to HGVS guidelines (www.hgvs.org). Traditional nomenclature is given in parentheses. All EQA names are
www.nature.com/articles/ejhg2012...

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 测序技术的个体化医学检测 

HGVS:human genome variation society 人类基因组变异学会 HLA: Human leukocyte ... http://www.genome.gov/sequencingcosts/ 31 此外,特定基因组区域所需的覆盖深度可受...
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