Clinical and exome sequencing findings in seven children with Bardet–Biedl syndrome from Turkey-Reference-Cited by-同舟云学术

Clinical and exome sequencing findings in seven children with Bardet–Biedl syndrome from Turkey

Author:

Gumus Evren¹²^ORCID,Tuncez Ebru³,Oz Ozlem¹,Saka Guvenc Merve⁴

Affiliation:

1. Department of Medical Genetics, Faculty of Medicine University of Harran Sanliurfa Turkey

2. Department of Medical Genetics, Faculty of Medicine University of Mugla Sitki Kocman Mugla Turkey

3. Clinic of Medical Genetics Sanliurfa Training and Research Hospital Sanliurfa Turkey

4. Genetic Diagnosis Center, Tepecik Training and Research Hospital University of Health Sciences Izmir Turkey

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

Reference50 articles.

2. Predicting functional effect of human missense mutations using PolyPhen‐2;Adzhubei I.;Current Protocols in Human Genetics,2013

5. The 3rd W522X mutation in EIF2AK3 gene from Turkey: A new patient with Wolcott‐Rallison syndrome;Bahsi T.;Genetic Counseling,2016

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