biomedical and healthCAre Data Discovery Index Ecosystem
biomedical and healthCAre Data Discovery Index Ecosystem
| Title: | NM_139058.2(ARX):c.216C>A (p.Ser72Arg) AND not provided |
| type: |
Variation
|
| ID: |
9606
|
| species: |
human
|
| accesstypes: |
download
|
| authorization: |
none
|
| authentication: |
none
|
| dateModified: |
11-03-2016
|
| ID: |
394657
|
| dateSubmitted: |
03-23-2015
|
| ID: |
SCV000218443
|
| ID: |
157752
|
| name: |
National Center for Biotechnology Information
|
| abbreviation: |
NCBI
|
| homePage: | https://www.ncbi.nlm.nih.gov/ |
| name: |
ClinVar
|
| abbreviation: |
ClinVar
|
| homePage: | https://www.ncbi.nlm.nih.gov/clinvar/ |
NM_139058.2(ARX):c.216C>A (p.Ser72Arg) AND epileptic encephalopathy, early ...
NM_139058.2(ARX):c.260G>C (p.Arg87Pro) AND not provided...
NM_007294.3(BRCA1):c.216C>G (p.Ser72Arg) AND Familial cancer of breast...
NM_139058.2(ARX):c.441A>G (p.Ala147=) AND not specified...
NM_001927.3(DES):c.216C>A (p.Ser72Arg) AND not provided...
NM_153704.5(TMEM67):c.622A>T (p.Arg208Ter) AND Meckel syndrome type 3...