Additional file 8: Figure S3. of Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis
- Bianca Tesi (3556535)
- Kristina Lagerstedt-Robinson (3556532)
- Samuel Chiang (1347882)
- Eya Bdira (3556493)
- Miguel Abboud (3556472)
- Burcu Belen (3556490)
- Omer Devecioglu (3556514)
- Zehra Fadoo (3556487)
- Allen Yeoh (3556511)
- Hans Erichsen (3556478)
- Merja MĂśttĂśnen (3556538)
- Himmet Akar (3556505)
- Johanna Hästbacka (3432836)
- Zuhre Kaya (3556475)
- Susana Nunes (3556502)
- Turkan Patiroglu (3556526)
- Magnus Sabel (3556517)
- Ebru Saribeyoglu (3556508)
- Tor Tvedt (3556484)
- Ekrem Unal (3556520)
- Sule Unal (3556496)
- Aysegul Unuvar (3556499)
- Marie Meeths (3556529)
- Jan-Inge Henter (282874)
- Magnus NordenskjĂśld (3556541)
- Yenan Bryceson (3556523)
Publication date
December 2015
DOIAbstract
Distribution of all variants (a) and variants with likely pathogenic effect (b) by gene. Frequency of at least one rare variant with pathogenic in silico prediction in the 1000 Genomes cohort versus the undiagnosed patients in all 12 genes analyzed (c) or in the FHL genes only (d). (EPS 1784 kb
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