Journal Article

A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation

Fernanda Gutierrez-Rodrigues; Nohad Masri; Eliane Chouery; Carrie Diamond; Nadine Jalkh; Alana Vicente; Sachiko Kajigaya; Fayez Abillama; Noha Bejjani; Wassim Serhal; Rodrigo T. Calado; Neal S. Young; Hussein Farhat; Marie Louise Coussa

Human Genetics · Vol. 138, Issue 11-12 · pp. 1323-1330 · 2019

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Abstract

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Bibliographic Information

Journal	Human Genetics
Publisher	Springer
Publication Date	2019-12-01
Publication Year	2019
Volume	138
Issue	11-12
Pages	1323-1330
Document Type	Journal Article
Print ISSN	0340-6717
eISSN	1432-1203
DOI	10.1007/s00439-019-02076-8

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NARA Access Coverage	1964-01-01~Current
Journal Homepage	https://www.springer.com/journal/439
Publisher Page	Open Publisher Page

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