FBN1 gene sequencing. human blood metagenome

NIAID Data Ecosystem2026-03-12 收录

遗传病基因诊断

FBN1基因变异分析

数据链接：

https://www.ncbi.nlm.nih.gov/bioproject/PRJNA668437 数据链接链接失效反馈

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资源简介：

FBN1 gene sequencing of Chinese isolated ectopia lentis patients

创建时间：

2020-10-10

Genotypes of SD patients analyzed in this study.

遗传病基因诊断

桑德霍夫病突变分析

ND: not detectable; NA: not available. Novel mutations are indicated in bold, *RefSeq cDNA:NM_000521. For cDNA numbering +1 corresponds to the A of the first ATG translation initiation codon. RefSeq p

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Additional file 4: of Targeted next-generation sequencing identification of mutations in patients with disorders of sex development

遗传病基因诊断

测序数据质量控制

Sequencing quality statistics of all samples. (XLSX 14.4 kb)

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遗传病基因诊断

神经退行性疾病遗传

Dataset contains Genetic data in VCF format of an Italian patient with spastic ataxia phenotype

Zenodo2021-09-08 更新20

Homo sapiens Exome. Homo sapiens

遗传病基因诊断

外显子变异分析

Exome sequencing for a Chinese girl with KBG syndrome

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File S1 - Towards Clinical Molecular Diagnosis of Inherited Cardiac Conditions: A Comparison of Bench-Top Genome DNA Sequencers

遗传病基因诊断

测序平台性能评估

ComparisonMiSeq_PGM_supplementary.docx includes six figures and two tables. Figure S1. Characteristics of target capture design: GC content and length of Access Array IFC amplicons. a. Amplicon GC con

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FBN1 gene sequencing. human blood metagenome

资源简介：

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