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13.2. Challenges associated with providing diabetes care in humanitarian settings

P Boulle , S Kehlenbrink , J Smith , D Beran , K Jobanputra

Lancet Diabetes Endocrinol 2019 Published Online March 13, 2019. DOI: 10.1016/S2213-8587(19)30083-X• Practical challenges associated with diabetes care in humanitarian contexts in low- and middle- income countries abound.• In this position paper, the authors articulate the important needs around diabetes care in the context of the 6 building blocks ...

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ey0021.4-13 | New Perspectives | ESPEYB21

4.13. Saturation genome editing of BAP1 functionally classifies somatic and germline variants

AJ Waters , T Brendler-Spaeth , D Smith , V Offord , HK Tan , Y Zhao , S Obolenski , M Nielsen , R van Doorn , JE Murphy , P Gupta , CF Rowlands , H Hanson , E Delage , M Thomas , EJ Radford , SS Gerety , C Turnbull , JRB Perry , ME Hurles , DJ Adams

Brief Summary: These authors performed exhaustive saturation genome editing (SGE) of BAP1 (BRCA1-associated protein 1), the disruption of which is linked to tumorigenesis and altered neurodevelopment. 18,108 unique variants were characterized, of which 6,196 were found to have abnormal functions. These were then used to evaluate phenotypic associations in the UK Biobank. BAP1 variants were also characterized in a large population-ascertained tumor collection,...

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ESPE Yearbook of Paediatric Endocrinology

13.2. Challenges associated with providing diabetes care in humanitarian settings

4.13. Saturation genome editing of BAP1 functionally classifies somatic and germline variants

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