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Novel SIAH1 Frameshift Variant in a Chilean Patient With Buratti–Harel Syndrome
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| Published in: | Case Reports in Genetics |
|---|---|
| Format: | Online Article RSS Article |
| Published: |
2025
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| Subjects: | |
| Tags: |
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| _version_ | 1864030189442301952 |
|---|---|
| collection | WordPress RSS FRELIP Feed Integration |
| container_title | Case Reports in Genetics |
| description | |
| discipline_display | Life Sciences & Biology |
| discipline_facet | Life Sciences & Biology |
| format | Online Article RSS Article |
| genre | Journal Article |
| id | rss_article:28731 |
| institution | FRELIP |
| journal_source_facet | Case Reports in Genetics |
| publishDate | 2025 |
| publishDateSort | 2025 |
| record_format | rss_article |
| spellingShingle | Novel SIAH1 Frameshift Variant in a Chilean Patient With Buratti–Harel Syndrome — — — — — — 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 | Novel SIAH1 Frameshift Variant in a Chilean Patient With Buratti–Harel Syndrome |
| title_auth | Novel SIAH1 Frameshift Variant in a Chilean Patient With Buratti–Harel Syndrome |
| title_full | Novel SIAH1 Frameshift Variant in a Chilean Patient With Buratti–Harel Syndrome |
| title_fullStr | Novel SIAH1 Frameshift Variant in a Chilean Patient With Buratti–Harel Syndrome |
| title_full_unstemmed | Novel SIAH1 Frameshift Variant in a Chilean Patient With Buratti–Harel Syndrome |
| title_short | Novel SIAH1 Frameshift Variant in a Chilean Patient With Buratti–Harel Syndrome |
| title_sort | novel siah1 frameshift variant in a chilean patient with buratti–harel syndrome |
| topic | — — — — — — Genetics Biological Sciences Life Sciences & Biology |
| url | https://www.hindawi.com/journals/crig/2025/8822406/ |