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Kufor–Rakeb Syndrome in a Guatemalan Patient With an ATP13A2 Gene Pathogenic Variant: A Case Report
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| Published in: | Case Reports in Genetics |
|---|---|
| Format: | Online Article RSS Article |
| Published: |
2025
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| _version_ | 1868552983445241856 |
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| collection | WordPress RSS FRELIP Feed Integration |
| container_title | Case Reports in Genetics |
| description | |
| discipline_display | Genetics |
| discipline_facet | Genetics |
| format | Online Article RSS Article |
| genre | Journal Article |
| id | rss_article:70867 |
| institution | FRELIP |
| journal_source_facet | Case Reports in Genetics |
| last_indexed | 2026-06-20T21:29:44.956Z |
| publishDate | 2025 |
| publishDateSort | 2025 |
| record_format | rss_article |
| spellingShingle | Kufor–Rakeb Syndrome in a Guatemalan Patient With an ATP13A2 Gene Pathogenic Variant: A Case Report Genetics General Genetics |
| sub_discipline_display | General |
| sub_discipline_facet | General |
| subject_display | Genetics General Genetics |
| subject_facet | Genetics General Genetics |
| title | Kufor–Rakeb Syndrome in a Guatemalan Patient With an ATP13A2 Gene Pathogenic Variant: A Case Report |
| title_alt | Síndrome de Kufor–Rakeb en un paciente guatemalteco con una variante patogénica del gen ATP13A2: reporte de caso Syndrome de Kufor–Rakeb chez un patient guatémaltèque avec un variant pathogène du gène ATP13A2 : rapport de cas Síndrome de Kufor–Rakeb em um Paciente Guatemalteco com uma Variante Patogênica do Gene ATP13A2: Um Relato de Caso |
| title_auth | Kufor–Rakeb Syndrome in a Guatemalan Patient With an ATP13A2 Gene Pathogenic Variant: A Case Report |
| title_es_txt | Síndrome de Kufor–Rakeb en un paciente guatemalteco con una variante patogénica del gen ATP13A2: reporte de caso |
| title_fr_txt | Syndrome de Kufor–Rakeb chez un patient guatémaltèque avec un variant pathogène du gène ATP13A2 : rapport de cas |
| title_full | Kufor–Rakeb Syndrome in a Guatemalan Patient With an ATP13A2 Gene Pathogenic Variant: A Case Report |
| title_fullStr | Kufor–Rakeb Syndrome in a Guatemalan Patient With an ATP13A2 Gene Pathogenic Variant: A Case Report |
| title_full_unstemmed | Kufor–Rakeb Syndrome in a Guatemalan Patient With an ATP13A2 Gene Pathogenic Variant: A Case Report |
| title_pt_txt | Síndrome de Kufor–Rakeb em um Paciente Guatemalteco com uma Variante Patogênica do Gene ATP13A2: Um Relato de Caso |
| title_short | Kufor–Rakeb Syndrome in a Guatemalan Patient With an ATP13A2 Gene Pathogenic Variant: A Case Report |
| title_sort | kufor–rakeb syndrome in a guatemalan patient with an atp13a2 gene pathogenic variant: a case report |
| topic | Genetics General Genetics |
| url | https://www.hindawi.com/journals/crig/2025/6993134/ |