Full Text Available
Note: Clicking the button above will open the full text document at the original institutional repository in a new window.
Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations
Saved in:
| Published in: | Molecular Genetics & Genomic Medicine |
|---|---|
| Format: | Online Article RSS Article |
| Published: |
2026
|
| Subjects: | |
| Tags: |
No Tags, Be the first to tag this record!
|
| _version_ | 1864030193187815424 |
|---|---|
| collection | WordPress RSS FRELIP Feed Integration |
| container_title | Molecular Genetics & Genomic Medicine |
| description | |
| discipline_display | Life Sciences & Biology |
| discipline_facet | Life Sciences & Biology |
| format | Online Article RSS Article |
| genre | Journal Article |
| id | rss_article:46084 |
| institution | FRELIP |
| journal_source_facet | Molecular Genetics & Genomic Medicine |
| publishDate | 2026 |
| publishDateSort | 2026 |
| record_format | rss_article |
| spellingShingle | Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations — — — — — — Genetics Biological Sciences Life Sciences & Biology |
| sub_discipline_display | Biological Sciences |
| sub_discipline_facet | Biological Sciences |
| subject_display | — — — — — — Genetics Biological Sciences Life Sciences & Biology — — — — — — Genetics Biological Sciences Life Sciences & Biology |
| subject_facet | — — — — — — Genetics Biological Sciences Life Sciences & Biology |
| title | Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations |
| title_auth | Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations |
| title_full | Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations |
| title_fullStr | Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations |
| title_full_unstemmed | Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations |
| title_short | Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations |
| title_sort | homozygous pathogenic variant in elongation factor‐like 1 (efl1) as a causal factor in shwachman‐diamond syndrome 2 in a palestinian child, with distinct ocular manifestations |
| topic | — — — — — — Genetics Biological Sciences Life Sciences & Biology |
| url | https://onlinelibrary.wiley.com/doi/10.1002/mgg3.70226?af=R |