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Homozygous Missense variant in CDH2 cause combined pituitary hormone deficiencies without neurological disorders

NIAID Data Ecosystem2026-03-13 收录

垂体功能减退症

基因变异

数据链接：

https://www.ncbi.nlm.nih.gov/bioproject/PRJNA876925 数据链接链接失效反馈

官方服务：

资源简介：

Familial study of a patient presenting with hypopituitarism

应用场景：

创建时间：

2022-09-05

基因变异

功能特性

1. LPIN1 is a Mg 2+ -dependent phosphatidic acid phosphatase. Variation in chicken Lpin1 exon 6 and its flanking regions were identified and three indel variants in 6 breeds and their

DataCite Commons2020-09-04 更新700

gVCF_HG04238

基因组学

基因变异

1000 Genomes gVCF mapped to hs37d5 for HG04238. Complete collection: https://doi.org/10.6084/m9.figshare.c.4414307

DataCite Commons2020-08-27 更新80

Data from: Novel opsin gene variation in large-bodied, diurnal lemurs

基因变异

视觉特性

Some primate populations include both trichromatic and dichromatic (red–green colour blind) individuals due to allelic variation at the X-linked opsin locus. This polymorphic trichromacy is well descr

DataONE2016-11-11 更新80

Additional file 3 of Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1

遗传学

基因变异

Additional file 3: Table S3. Characteristics and classification of constitutional (germline) POLE and POLD1 exonuclease domain missense variants.

DataCite Commons2024-08-15 更新110

Spontaneous single nucleotide polymorphism in porcine microRNA-378 seed region leads to functional alteration

基因变异

microRNA功能

Sequence variation in a microRNA (miRNA) seed region can influence its biogenesis and effects on target mRNAs; however, in mammals, few seed region mutations leading to functional alterations have bee

DataCite Commons2024-02-20 更新80

Homozygous Missense variant in CDH2 cause combined pituitary hormone deficiencies without neurological disorders

资源简介：

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