Association of NPC1 variant p.P237S with a pathogenic splice variant in two Niemann-Pick disease type C1 patients.
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Association of NPC1 variant p.P237S with a pathogenic splice variant in two Niemann-Pick disease type C1 patients.
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2017 nî lūn-bûn
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2017年の論文
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2017年学术文章
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2017年学术文章
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name
Association of NPC1 variant p. ...... Pick disease type C1 patients.
@en
Association of NPC1 variant p. ...... Pick disease type C1 patients.
@nl
type
label
Association of NPC1 variant p. ...... Pick disease type C1 patients.
@en
Association of NPC1 variant p. ...... Pick disease type C1 patients.
@nl
prefLabel
Association of NPC1 variant p. ...... Pick disease type C1 patients.
@en
Association of NPC1 variant p. ...... Pick disease type C1 patients.
@nl
P2093
P2860
P356
P1476
Association of NPC1 variant p. ...... -Pick disease type C1 patients
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P2093
Alexander Salman
Christopher A Wassif
Forbes D Porter
Nicole Farhat
P2860
P304
P356
10.1002/AJMG.A.38104
P407
P577
2017-04-01T00:00:00Z