Wredenberg, Anna
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5

The disease-causing mutation p.F907I reveals a novel pathog..:

Erdinc, Direnis ; Macao, Bertil ; Valenzuela, Sebastian...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.  1869 (2023)  7 - p. 166786 , 2023
 
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10

Bi-allelic loss-of-function variants in PPFIBP1 cause a neu..:

Rosenhahn, Erik ; O'Brien, Thomas J. ; Zaki, Maha S....
The American Journal of Human Genetics.  109 (2022)  8 - p. 1421-1435 , 2022
 
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