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A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation |
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Titel: |
A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation |
Auteur: |
Gutierrez-Rodrigues, Fernanda Masri, Nohad Chouery, Eliane Diamond, Carrie Jalkh, Nadine Vicente, Alana Kajigaya, Sachiko Abillama, Fayez Bejjani, Noha Serhal, Wassim Calado, Rodrigo T. Young, Neal S. Farhat, Hussein Coussa, Marie Louise |
Verschenen in: |
Human genetics |
Paginering: |
Jaargang 138 () nr. 11-12 pagina's 1323-1330 |
Jaar: |
2019 |
Inhoud: |
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Uitgever: |
Springer Berlin Heidelberg, Berlin/Heidelberg |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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