Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
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Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
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2018 nî lūn-bûn
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2018年の論文
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2018年学术文章
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name
Heterozygous Truncating Varian ...... Immune Dysregulatory Syndrome.
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Heterozygous Truncating Varian ...... Immune Dysregulatory Syndrome.
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type
label
Heterozygous Truncating Varian ...... Immune Dysregulatory Syndrome.
@en
Heterozygous Truncating Varian ...... Immune Dysregulatory Syndrome.
@nl
prefLabel
Heterozygous Truncating Varian ...... Immune Dysregulatory Syndrome.
@en
Heterozygous Truncating Varian ...... Immune Dysregulatory Syndrome.
@nl
P2093
P2860
P1476
Heterozygous Truncating Varian ...... Immune Dysregulatory Syndrome
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P2093
Barbara A Zieba
Brendan Lee
Bret L Bostwick
Claudia M B Carvalho
Deborah A Schady
Donna M Muzny
Elke Krüger
Emily M Mace
Frédéric Ebstein
Ivan K Chinn
P2860
P304
P356
10.1016/J.AJHG.2018.04.010
P407
P577
2018-05-24T00:00:00Z