Article

Novel Homozygous <i>TULP1</i> and <i>RPE65</i> Variants Underlies Recessive Retinitis Pigmentosa

2020-09-03

Abstract excerpt

Retinitis pigmentosa (RP) clinically and genetically heterogeneous group of inherited retinal disorders (IRD) that result in retinal degeneration. This study aimed to identify the genetic findings of patients with autosomal recessive retinitis pigmentosa (arRP). Whole exome sequencing (WES) was performed in two unrelated Pakistani families underlying arRP. Data analysis and mutation screening was performed for all...

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Literature Corpus work: 358d5e5b-50be-5c9f-a665-53d818b26b35
DOI: 10.20944/preprints202009.0062.v1

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