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Yongyi Yuan et al.
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Andrew J. Griffith et al.
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Shasha Huang et al.
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Alejandra Pera et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
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Q-J Wang et al.
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Transcriptional control of SLC26A4 is involved in pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)
Tao Yang et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations
Sebastien Albert et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2006)
Pendrin:: an apical Cl-/OH-/HCO3- exchanger in the kidney cortex
M Soleimani et al.
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY (2001)