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ejhg.2015.89
ejhg.2015.89
https://scigraph.springernature.com/pub.10.1038/ejhg.2015.89
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.
P2888
Q36475065-079627F8-C25F-49A4-97C4-8E529AB37AA1
P2888
ejhg.2015.89
https://scigraph.springernature.com/pub.10.1038/ejhg.2015.89