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s10545-014-9682-y
s10545-014-9682-y
https://scigraph.springernature.com/pub.10.1007/s10545-014-9682-y
Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].
P2888
Q34151650-16312A43-AE5E-40CE-8791-3B8B160A47A6
P2888
s10545-014-9682-y
https://scigraph.springernature.com/pub.10.1007/s10545-014-9682-y