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alleles (2) 2
female (2) 2
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mutation (2) 2
nihr bioresource–rare diseases consortium (2) 2
adult (1) 1
b cells (1) 1
base sequence (1) 1
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cancer-predisposition syndromes, genetic testing, inherited cancer genetics, whole-genome sequencing (1) 1
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common variable immunodeficiency (1) 1
consanguinity (1) 1
copy-number variants (1) 1
genetics & heredity (1) 1
guanine nucleotide exchange factors (1) 1
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microphthalmia (1) 1
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retinal dystrophy (1) 1
retinitis pigmentosa - blood (1) 1
retinitis pigmentosa - genetics (1) 1
retinol-binding proteins, plasma - genetics (1) 1
serum retinol level (1) 1
tomography, optical coherence (1) 1
vitamin a - blood (1) 1
vitamin a deficiency (1) 1
vitamin a deficiency - blood (1) 1
vitamin a deficiency - genetics (1) 1
whole genome sequencing (1) 1
whole-genome sequence (1) 1
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