| Entry |
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| Name |
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| Type |
Loss of function
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|---|
| Gene |
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|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
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| Variation |
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|---|
| Network |
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|---|
| Disease |
| H02569 | Pulmonary fibrosis and/or bone marrow failure, telomere-related |
|
|---|
| Reference |
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|---|
| Authors |
Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, Vulliamy T, Dokal I |
|---|
| Title |
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Yamaguchi H, Calado RT, Ly H, Kajigaya S, Baerlocher GM, Chanock SJ, Lansdorp PM, Young NS |
|---|
| Title |
Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Zhang A, Zheng C, Hou M, Lindvall C, Li KJ, Erlandsson F, Bjorkholm M, Gruber A, Blennow E, Xu D |
|---|
| Title |
Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome. |
|---|
| Journal |
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|---|
| LinkDB |
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