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Ethnicity, child health and paediatric services.

Qureshi Z. et al, (2022), Arch Dis Child

Hb Penang [β78(EF2)Leu→Pro, HBB: c.236T>C]: a Novel β-Globin Variant.

Hsu CH-W. et al, (2018), Hemoglobin, 42, 199 - 202

Gene of the month: PRPF31.

Rose AM. et al, (2017), Journal of clinical pathology, 70, 729 - 732

Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.

Rose AM. and Bhattacharya SS., (2016), Clinical genetics, 90, 118 - 126

Diverse clinical phenotypes associated with a nonsense mutation in FAM161A.

Rose AM. et al, (2015), Eye (London, England), 29, 1226 - 1232

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