Reporting three rare pathogenic variants at the CFTR gene in two unrelated Iranian Azeri children with cystic fibrosis
Background Cystic fibrosis (CF) is an autosomal recessive inherited life-threatening disease that causes changes in the electrolyte transport system, leading to high absorption of sodium and water. Disease-causing variants of the CFTR gene are responsible for this disease. In the present study, thre...
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Veröffentlicht in: | Egyptian Journal of Medical Human Genetics 2024-10, Vol.25 (1), p.113-5, Article 113 |
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