Accurate inference of relatedness between individuals in breeding population contributes to the precision of genetic parameter estimates, effectiveness of inbreeding management and the amount of genet

DataONE2017-12-28 更新50

Disease-causing mutations and phenotypes of individual A3964-21 with end-stage renal disease and homozygous missense mutation in VWA2 .

遗传性肾病

基因型-表型关联

Disease-causing mutations and phenotypes of individual A3964-21 with end-stage renal disease and homozygous missense mutation in VWA2.

NIAID Data Ecosystem10

Table_4_Genotype–Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review.XLSX

基因型-表型关联

视网膜色素变性

PurposeRPGR is the most common cause of X-linked retinitis pigmentosa (RP), of which female carriers are also frequently affected. The aim of the current study was to explore the RPGR variation spectr

NIAID Data Ecosystem50

Troponin I mutation associated with Restrictive Cardiomyopathy with mild hypertrophy

遗传性心肌病

基因型-表型关联

In our study, TNNI3 gene exons were sequenced in terms to analyse the association between RCM and TNNI3 gene mutation in Indian Patients. We found a novel variant associated with severe form of restri

NIAID Data Ecosystem20

Genotype and phenotype

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