RTEL1
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Familial Pulmonary Fibrosis, including Cystic Fibrosis
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Solid tumors in adults
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Genetic predisposition to hematological malignancies
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Telomere related diseases
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Monogenic inflammatory bowel disease
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Cytopenias and inborn errors of immunity
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Congenital diarrhea
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Autoimmune and autoinflammatory syndromes
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Polycystic liver disease
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Infantile enterocolitis & monogenic inflammatory bowel disease
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Familial pulmonary fibrosis (including cystic fibrosis)
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Leukodystrophy- White Matter Disease Early Onset
