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Milder Form of Vici Syndrome Due to Novel Missense Variant in Epg5 Gene Affecting Splicing: A Case Report
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| Published in: | Endocrine Regulations |
|---|---|
| Format: | Online Article RSS Article |
| Published: |
2026
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| Subjects: | |
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| _version_ | 1870116512900055040 |
|---|---|
| collection | WordPress RSS FRELIP Feed Integration |
| container_title | Endocrine Regulations |
| description | |
| discipline_display | Endocrinology |
| discipline_facet | Endocrinology |
| format | Online Article RSS Article |
| genre | Journal Article |
| id | rss_article:100434 |
| institution | FRELIP |
| journal_source_facet | Endocrine Regulations |
| last_indexed | 2026-07-08T03:41:26.844Z |
| publishDate | 2026 |
| publishDateSort | 2026 |
| record_format | rss_article |
| spellingShingle | Milder Form of Vici Syndrome Due to Novel Missense Variant in Epg5 Gene Affecting Splicing: A Case Report Endocrinology General Endocrinology |
| sub_discipline_display | General |
| sub_discipline_facet | General |
| subject_display | Endocrinology General Endocrinology |
| subject_facet | Endocrinology General Endocrinology |
| title | Milder Form of Vici Syndrome Due to Novel Missense Variant in Epg5 Gene Affecting Splicing: A Case Report |
| title_alt | Forma más leve del síndrome de Vici debido a una nueva variante missense en el gen Epg5 que afecta el splicing: reporte de caso Forme plus légère du syndrome de Vici due à un nouveau variant faux-sens dans le gène Epg5 affectant l'épissage : rapport de cas Forma mais leve da síndrome de Vici devido a nova variante missense no gene Epg5 afetando splicing: Relato de caso |
| title_auth | Milder Form of Vici Syndrome Due to Novel Missense Variant in Epg5 Gene Affecting Splicing: A Case Report |
| title_es_txt | Forma más leve del síndrome de Vici debido a una nueva variante missense en el gen Epg5 que afecta el splicing: reporte de caso |
| title_fr_txt | Forme plus légère du syndrome de Vici due à un nouveau variant faux-sens dans le gène Epg5 affectant l'épissage : rapport de cas |
| title_full | Milder Form of Vici Syndrome Due to Novel Missense Variant in Epg5 Gene Affecting Splicing: A Case Report |
| title_fullStr | Milder Form of Vici Syndrome Due to Novel Missense Variant in Epg5 Gene Affecting Splicing: A Case Report |
| title_full_unstemmed | Milder Form of Vici Syndrome Due to Novel Missense Variant in Epg5 Gene Affecting Splicing: A Case Report |
| title_pt_txt | Forma mais leve da síndrome de Vici devido a nova variante missense no gene Epg5 afetando splicing: Relato de caso |
| title_short | Milder Form of Vici Syndrome Due to Novel Missense Variant in Epg5 Gene Affecting Splicing: A Case Report |
| title_sort | milder form of vici syndrome due to novel missense variant in epg5 gene affecting splicing: a case report |
| topic | Endocrinology General Endocrinology |
| url | https://sciendo.com/article/10.2478/enr-2026-0015 |