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| Cytopenias and congenital anaemias v1.111 | RFWD3 |
Øystein Holla changed review comment from: Only one compund heterozygote published, c.205_206dupCC; p.L69Pfs*12) and c.1916T>A; p.I639K. (PMID:28691929). Sources: Literature; to: Only one compound heterozygote published, c.205_206dupCC; p.L69Pfs*12) and c.1916T>A; p.I639K. (PMID:28691929). Sources: Literature |
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| Cytopenias and congenital anaemias v1.111 | RFWD3 |
Øystein Holla changed review comment from: Only one compund heterozygote published, c.205_206dupCC; p.L69Pfs*12) and c.1916T>A; p.I639K. (PMID:28691929) Sources: Literature; to: Only one compund heterozygote published, c.205_206dupCC; p.L69Pfs*12) and c.1916T>A; p.I639K. (PMID:28691929). Sources: Literature |
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| Cytopenias and congenital anaemias v1.111 | RFWD3 |
Øystein Holla gene: RFWD3 was added gene: RFWD3 was added to Cytopenias and congenital anaemias. Sources: Literature Mode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFWD3 were set to 28691929 Phenotypes for gene: RFWD3 were set to Fanconi anemia Penetrance for gene: RFWD3 were set to unknown Review for gene: RFWD3 was set to RED Added comment: Only one compund heterozygote published, c.205_206dupCC; p.L69Pfs*12) and c.1916T>A; p.I639K. (PMID:28691929) Sources: Literature |
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