Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).

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Zielenski J, Patrizio P, Markiewicz D, Asch RH, Tsui LC

Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).

Hum Mutat. 1997;9(2):183-4.

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9067761 [ View in PubMed
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Polypeptides
NameUniProt ID
Cystic fibrosis transmembrane conductance regulatorP13569Details