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Functional Studies on Novel RET Mutations and Their Implications for Genetic Counseling for Hirschsprung Disease
Hirschsprung disease (HSCR) is a genetic disorder characterized by the absence of ganglion cells in the gut. RET is considered to be the main susceptibility gene. In our previous screening of 83 HSCR patients, targeted exome sequencing identified nine rare variants of RET, most of which were new dis...
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| Publicado no: | Front Genet |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6792140/ https://ncbi.nlm.nih.gov/pubmed/31649719 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.00924 |
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