The Ser19Stop single nucleotide polymorphism (SNP) of human PHYHIPL affects the cerebellum in mice.
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ABSTRACT:
SUBMITTER: Sugimoto H
PROVIDER: S-EPMC7953787 | biostudies-literature | 2021 Mar
REPOSITORIES: biostudies-literature
Publications
The Ser19Stop single nucleotide polymorphism (SNP) of human PHYHIPL affects the cerebellum in mice.
Sugimoto Hisako H Horii Takuro T Hirota Jun-Na JN Sano Yoshitake Y Shinoda Yo Y Konno Ayumu A Hirai Hirokazu H Ishizaki Yasuki Y Hirase Hajime H Hatada Izuho I Furuichi Teiichi T Sadakata Tetsushi T
Molecular brain 20210312 1
The HapMap Project is a major international research effort to construct a resource to facilitate the discovery of relationships between human genetic variations and health and disease. The Ser19Stop single nucleotide polymorphism (SNP) of human phytanoyl-CoA hydroxylase-interacting protein-like (PHYHIPL) gene was detected in HapMap project and registered in the dbSNP. PHYHIPL gene expression is altered in global ischemia and glioblastoma multiforme. However, the function of PHYHIPL is unknown. ...[more]
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