Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 | |
| | | Deletion (frameshift variant) | Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 | |
| | | Duplication (frameshift variant) | Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 | |
Click to view in NCBI Gene