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Prenatal Diagnosis and Functional Analysis of Two Compound Heterozygous Variants in the KLHL40 Gene Causing Nemaline Myopathy 8
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| Published in: | Molecular Genetics & Genomic Medicine |
|---|---|
| Format: | Online Article RSS Article |
| Published: |
2026
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| _version_ | 1870387971220307969 |
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| collection | WordPress RSS FRELIP Feed Integration |
| container_title | Molecular Genetics & Genomic Medicine |
| description | |
| discipline_display | Genetics |
| discipline_facet | Genetics |
| format | Online Article RSS Article |
| genre | Journal Article |
| id | rss_article:101909 |
| institution | FRELIP |
| journal_source_facet | Molecular Genetics & Genomic Medicine |
| last_indexed | 2026-07-11T03:36:08.986Z |
| publishDate | 2026 |
| publishDateSort | 2026 |
| record_format | rss_article |
| spellingShingle | Prenatal Diagnosis and Functional Analysis of Two Compound Heterozygous Variants in the KLHL40 Gene Causing Nemaline Myopathy 8 Genetics General Genetics |
| sub_discipline_display | General |
| sub_discipline_facet | General |
| subject_display | Genetics General Genetics |
| subject_facet | Genetics General Genetics |
| title | Prenatal Diagnosis and Functional Analysis of Two Compound Heterozygous Variants in the KLHL40 Gene Causing Nemaline Myopathy 8 |
| title_alt | Diagnóstico Prenatal y Análisis Funcional de Dos Variantes Heterocigotas Compuestas en el Gen KLHL40 que Causan Miopatía Nemalínica 8 Diagnostic prénatal et analyse fonctionnelle de deux variants hétérozygotes composites dans le gène KLHL40 causant la myopathie némaline 8 Diagnóstico Pré-Natal e Análise Funcional de Duas Variantes Heterozigóticas Compostas no Gene KLHL40 Causando Miopatia Nemalínica 8 |
| title_auth | Prenatal Diagnosis and Functional Analysis of Two Compound Heterozygous Variants in the KLHL40 Gene Causing Nemaline Myopathy 8 |
| title_es_txt | Diagnóstico Prenatal y Análisis Funcional de Dos Variantes Heterocigotas Compuestas en el Gen KLHL40 que Causan Miopatía Nemalínica 8 |
| title_fr_txt | Diagnostic prénatal et analyse fonctionnelle de deux variants hétérozygotes composites dans le gène KLHL40 causant la myopathie némaline 8 |
| title_full | Prenatal Diagnosis and Functional Analysis of Two Compound Heterozygous Variants in the KLHL40 Gene Causing Nemaline Myopathy 8 |
| title_fullStr | Prenatal Diagnosis and Functional Analysis of Two Compound Heterozygous Variants in the KLHL40 Gene Causing Nemaline Myopathy 8 |
| title_full_unstemmed | Prenatal Diagnosis and Functional Analysis of Two Compound Heterozygous Variants in the KLHL40 Gene Causing Nemaline Myopathy 8 |
| title_pt_txt | Diagnóstico Pré-Natal e Análise Funcional de Duas Variantes Heterozigóticas Compostas no Gene KLHL40 Causando Miopatia Nemalínica 8 |
| title_short | Prenatal Diagnosis and Functional Analysis of Two Compound Heterozygous Variants in the KLHL40 Gene Causing Nemaline Myopathy 8 |
| title_sort | prenatal diagnosis and functional analysis of two compound heterozygous variants in the klhl40 gene causing nemaline myopathy 8 |
| topic | Genetics General Genetics |
| url | https://onlinelibrary.wiley.com/doi/10.1002/mgg3.70270?af=R |