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Additional file 1: of Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease

Figshare2019-01-19 更新2026-04-29 收录

遗传病基因诊断

基因突变筛查

数据链接：

https://figshare.com/articles/dataset/Additional_file_1_of_Novel_compound_heterozygote_mutations_of_TJP2_in_a_Chinese_child_with_progressive_cholestatic_liver_disease/7608590 数据链接链接失效反馈

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资源简介：

Table S1. A list of screened genes. (XLSX 18 kb)

应用场景：

创建时间：

2019-01-19

SYNE1共济失调

基因突变筛查

Objective: Variants in SYNE1 have been widely reported in ataxia patients in Europe, with highly variable clinical phenotype. Until now, no mutation of SYNE1 ataxia has been reported among the Chinese

NIAID Data Ecosystem190

Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1 in cohort of 63 Brazilian children with thyroid dysgenesis

甲状腺发育不良

基因突变筛查

ABSTRACT Objective: To evaluate the candidate genes PAX-8, NKX2-5, TSH-R and HES-1 in 63 confirmed cases of thyroid dysgenesis. Subjects and methods: Characterization of patients with congenital hypot

DataCite Commons2021-03-27 更新100

Supporting data for Genome Sequencing Result for suspected Primary Ciliary Dyskinesia patients

遗传病基因诊断

原发性纤毛运动障碍

In this dataset, exome and genome sequencing for suspected primary ciliary dyskinesia cohort, including FASTQ, VCF, and BAM files. 61 participants and their family members had exome sequencing perform

DataCite Commons2022-01-12 更新80

Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1 in cohort of 63 Brazilian children with thyroid dysgenesis

甲状腺发育不良

基因突变筛查

DataCite Commons2021-03-27 更新120

Additional file 1 of A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report

遗传病基因诊断

外显子变异分析

Additional file 1. Rare protein-changing genetic variants identified in the proband by whole exome sequencing. The table provides information on missense, nonsense, frameshift and splicing genetic var

NIAID Data Ecosystem100

Additional file 1: of Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease

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