官方服务:
资源简介:
A novel mutation in the FERMT1 gene in a patient with Kindler Syndrome was identified
应用场景:
创建时间:
2021-06-22
相关数据集
Additional file 3 of The development of a cSMART-based integrated model for hepatocellular carcinoma diagnosis
Additional file 3: Table S9: Information of top 20 gene mutation sites.
DataCite Commons2024-02-07 更新170
Dataset - Complex IV in Breast Cancer
Dataset analyzed in the work entitled "Mutations in structural genes of the mitochondrial complex IV may influence breast cancer" by Oliveira et al. File generated with data from cBioPortal (Cerami et
DataCite Commons2023-06-13 更新110
StoneRounds Case: SR729
StoneRounds Case SR729 was diagnosed with Achromatopsia likely caused by mutations in the gene: CNGB3.
DataCite Commons2024-02-18 更新100
Supplementary Material for: NR5A1 Gene Mutations: Clinical, Endocrine and Genetic Features in Two Girls with 46,XY Disorder of Sex Development
Background: Steroidogenic factor 1, encoded by the NR5A1 gene, is a key regulator of endocrine function within the hypothalamic-pituitary-steroidogenic axis. Both homozygous, comp
DataCite Commons2020-09-02 更新140
Supplementary Material for: Osteoporosis-Pseudoglioma Syndrome: Three Novel Mutations in the LRP5 Gene and Response to Bisphosphonate Treatment
Background/Aims: Osteoporosis-pseudoglioma (OPPG) syndrome is a rare disorder characterized by congenital or infancy-onset visual loss and severe juvenile osteoporosis. OPPG is caused by homozy
DataCite Commons2020-09-02 更新100



