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Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants
BACKGROUND: When a family encounters the loss of a child early in life, extensive genetic testing of the affected neonate is sometimes not performed or not possible. However, the increasing availability of genomic sequencing may allow for direct application to families in cases where there is a cond...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6160706/ https://www.ncbi.nlm.nih.gov/pubmed/30047259 http://dx.doi.org/10.1002/mgg3.405 |