| Entry |
|
|---|
| Name |
|
|---|
| Type |
Loss of function
|
|---|
| Gene |
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
|
|---|
| Disease |
| H00296 | Defects in RecQ helicases |
| H02492 | Microcephaly, growth restriction, and increased sister chromatid exchange |
|
|---|
| Reference |
|
|---|
| Authors |
German J, Sanz MM, Ciocci S, Ye TZ, Ellis NA |
|---|
| Title |
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Kaur E, Agrawal R, Sengupta S |
|---|
| Title |
Functions of BLM Helicase in Cells: Is It Acting Like a Double-Edged Sword? |
|---|
| Journal |
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|---|
| LinkDB |
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|---|
