biomedical and healthCAre Data Discovery Index Ecosystem
biomedical and healthCAre Data Discovery Index Ecosystem
| Title: | NM_003680.3(YARS):c.241G>C (p.Asp81His) AND not provided |
| type: |
Variation
|
| ID: |
9606
|
| species: |
human
|
| accesstypes: |
download
|
| authorization: |
none
|
| authentication: |
none
|
| dateModified: |
10-05-2016
|
| ID: |
334939
|
| dateSubmitted: |
09-02-2014
|
| ID: |
SCV000188699
|
| ID: |
155736
|
| 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_001605.2(AARS):c.2791G>A (p.Gly931Ser) AND not provided...
NM_003680.3(YARS):c.63T>C (p.Val21=) AND Charcot-Marie-Tooth disease, domin...
NM_003680.3(YARS):c.1180G>A (p.Val394Met) AND Charcot-Marie-Tooth disease, ...
NM_006158.4(NEFL):c.289C>T (p.Leu97Phe) AND not provided...
NM_015074.3(KIF1B):c.4073T>C (p.Val1358Ala) AND not provided...
NM_001003800.1(BICD2):c.1079C>T (p.Ala360Val) AND not provided...