Mountain View
biomedical and healthCAre Data Discovery Index Ecosystem
help Advanced Search
Title: Homo sapiens isolate:syne1 : Homo sapiens isolate:syne1 Genome sequencing      
keywords:
genome sequencing
ID:
PRJNA385742
description:
we reported a novel mutation in exon 46 on codon 2304 (G2304R) of the SYNE1 gene in a Chinese family (proband, mother, and sister) with EDMD-like features (affected with progressive muscular dystrophy manifested by joint contracture without cardiac involvement), and 100 healthy individuals did not show such mutation.
accesstypes:
download
landingpage: http://www.ncbi.nlm.nih.gov/bioproject/PRJNA385742
authentication:
none
authorization:
none
name:
Homo sapiens
ncbiID:
ncbitax:9606
abbreviation:
NCBI
homePage: http://www.ncbi.nlm.nih.gov
ID:
SCR:006472
name:
National Center for Biotechnology Information
homePage: http://www.ncbi.nlm.nih.gov/bioproject
ID:
SCR:004801
name:
NCBI BioProject