Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome

Publisher： John Wiley & Sons Inc

E-ISSN： 1098-1004|39|2|219-236

ISSN： 1059-7794

Source： HUMAN MUTATION, Vol.39, Iss.2, 2018-02, pp. : 219-236

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