Bibliography (23):

1. https://www.nejm.org/doi/suppl/10.1056/NEJMoa2035790/suppl_file/nejmoa2035790_appendix.pdf#page=18

2. https://www.nejm.org/doi/suppl/10.1056/NEJMoa2035790/suppl_file/nejmoa2035790_appendix.pdf#page=20

3. https://www.nejm.org/doi/suppl/10.1056/NEJMoa2035790/suppl_file/nejmoa2035790_appendix.pdf#page=43

4. https://www.nejm.org/doi/suppl/10.1056/NEJMoa2035790/suppl_file/nejmoa2035790_appendix.pdf#page=47

5. https://www.nejm.org/doi/suppl/10.1056/NEJMoa2035790/suppl_file/nejmoa2035790_appendix.pdf#page=48

6. Wikipedia Bibliography:

   1. 100,000 Genomes Project  :

      https://en.wikipedia.org/wiki/100,000_Genomes_Project

   2. https://en.wikipedia.org/wiki/Whole_genome_sequencing  :

      https://en.wikipedia.org/wiki/Whole_genome_sequencing

   3. https://en.wikipedia.org/wiki/National_Health_Service  :

      https://en.wikipedia.org/wiki/National_Health_Service

   4. Exome sequencing

   5. https://en.wikipedia.org/wiki/Consanguinity#Genetic_definitions  :

      https://en.wikipedia.org/wiki/Consanguinity#Genetic_definitions

   6. https://en.wikipedia.org/wiki/Choroideremia  :

      https://en.wikipedia.org/wiki/Choroideremia

   7. https://en.wikipedia.org/wiki/Rab_escort_protein_1  :

      https://en.wikipedia.org/wiki/Rab_escort_protein_1

   8. https://en.wikipedia.org/wiki/Gene_expression  :

      https://en.wikipedia.org/wiki/Gene_expression

   9. https://en.wikipedia.org/wiki/Transcobalamin  :

      https://en.wikipedia.org/wiki/Transcobalamin

   10. Zygosity § Homozygous  :

       https://en.wikipedia.org/wiki/Zygosity#Homozygous

   11. https://en.wikipedia.org/wiki/Hydroxocobalamin  :

       https://en.wikipedia.org/wiki/Hydroxocobalamin

   12. https://en.wikipedia.org/wiki/Chickenpox  :

       https://en.wikipedia.org/wiki/Chickenpox

   13. https://en.wikipedia.org/wiki/CTP_synthase_1  :

       https://en.wikipedia.org/wiki/CTP_synthase_1

   14. https://en.wikipedia.org/wiki/Hematopoietic_stem_cell_transplantation  :

       https://en.wikipedia.org/wiki/Hematopoietic_stem_cell_transplantation

   15. https://en.wikipedia.org/wiki/INF2  :

       https://en.wikipedia.org/wiki/INF2

   16. https://en.wikipedia.org/wiki/Focal_segmental_glomerulosclerosis  :

       https://en.wikipedia.org/wiki/Focal_segmental_glomerulosclerosis

   17. Kidney failure

   18. https://en.wikipedia.org/wiki/Kidney_transplants  :

       https://en.wikipedia.org/wiki/Kidney_transplants