首页/数据集/New KCNN4 variants associated to anemia: stomatocytosis without erythrocyte dehydration

New KCNN4 variants associated to anemia: stomatocytosis without erythrocyte dehydration

NIAID Data Ecosystem2026-03-13 收录

遗传性血液病

基因表型关联

数据链接：

https://www.ncbi.nlm.nih.gov/sra/SRP383982 数据链接链接失效反馈

官方服务：

资源简介：

New KCNN4 variants associated to anemia: stomatocytosis without erythrocyte dehydration.

应用场景：

创建时间：

2022-08-05

相关数据集

MUM_PRSS53_Mouse_Data.xlsx

基因表型关联

扫描电子显微镜

This dataset consists of scanning electron microscopy (SEM) measurements and sequencing data of two population specific variants; rs11150606 (chr16:g.31087690T>C (hg38) p.Gln30Arg) observed in East As

Research Data Australia190

QL53 ins-16(ok2919) | 2012-10-25T12:11:28+01:00

虫类行为分析

基因表型关联

This experiment is part of the C.elegans behavioural database. For more information and the complete collection of experiments visit http://movement.openworm.org preview link : https://www.youtub

NIAID Data Ecosystem60

Additional file 1: of Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression

神经发育障碍遗传学

基因表型关联

Table S1. Compiled list of all pathogenic variants. Table contains all pathogenic variants in the current report, previously published, and from the ClinVar database. (XLSX 18 kb)

NIAID Data Ecosystem50

RB1350 pqn-66(ok1507)II | 2010-04-23T10:20:37+01:00

虫类行为分析

基因表型关联

This experiment is part of the C.elegans behavioural database. For more information and the complete collection of experiments visit http://movement.openworm.org preview link : https://www.youtub

NIAID Data Ecosystem60

VC12 unc-77(gk9)IV | 2011-10-04T16:05:30+01:00

虫类行为分析

基因表型关联

This experiment is part of the C.elegans behavioural database. For more information and the complete collection of experiments visit http://movement.openworm.org preview link : https://www.youtub

NIAID Data Ecosystem60