| Entry |
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| Name |
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| Type |
Loss of function
|
|---|
| Gene |
BLM recQ-like DNA helicase BLM isoform 1 [KO: K10901]
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
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| Variation |
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|---|
| Network |
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|---|
| Disease |
| H00296 | Defects in RecQ helicases |
| H02492 | Microcephaly, growth restriction, and increased sister chromatid exchange |
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|---|
| 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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