Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 | |
| | | Single nucleotide variant (missense variant) | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 | |
| | | Single nucleotide variant (missense variant) | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 | |
| | | Single nucleotide variant (missense variant) | RPA1-related short telomere syndrome | |
Click to view in NCBI Gene