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Homo sapiens Variation. Homo sapiens

NIAID Data Ecosystem2026-03-10 收录

遗传变异分析

汉族人群遗传

数据链接：

https://www.ncbi.nlm.nih.gov/bioproject/PRJNA399790 数据链接链接失效反馈

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资源简介：

The aim of the present study was to characterize the PAH gene variants of a Han population from Northern China.

应用场景：

创建时间：

2017-08-23

遗传变异分析

单倍型块识别

File S1: Additional method section on setting a target-coverage. File S2: Additional method section on the graphical representation of haplotype blocks. File S3: Additional method section -

DataCite Commons2020-07-14 更新90

NWD841275.freeze5.v1.vcf.gz

遗传变异分析

精准医疗基因组学

TOPMed: NWD841275.freeze5.v1.vcf.gz File: VCF file

DataCite Commons2020-09-20 更新40

The SLC25A13 ASVs detected by cDNA analysis in the patient C0054.

遗传变异分析

线粒体疾病遗传

In this table, all the maternally-inherited ASVs but M-11 harbored r.329_468del. The nucleotide numbering was based on SLC25A13 cDNA sequence (GenBank: NM_014251), with +1 indicating the A of the ATG-

NIAID Data Ecosystem20

Synonymous variants in enhancer and splicing regions identified in families co-segregating with ET based on MM-KBAC analysis of rare variants.

遗传变异分析

原发性震颤致病机制

Synonymous variants in enhancer and splicing regions identified in families co-segregating with ET based on MM-KBAC analysis of rare variants.

NIAID Data Ecosystem40

JinbSamgNippIndiKitKasal.filtered.miss10.vcf.gz

水稻转录组学

遗传变异分析

Filtered variant call format (VCF) data of Jinbuol (JBO, female), Samgwang (SG, male), two RIL individuals (JSRIL1 and JSRIL2), Nipponbare1, IndicaHR12, Kitaake, and Kasalath using resequencing data p

DataCite Commons2024-11-11 更新30

Homo sapiens Variation. Homo sapiens

资源简介：

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