Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.
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Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.RIG-I-Like Receptor Signaling in Singleton-Merten Syndrome.Unified mechanisms for self-RNA recognition by RIG-I Singleton-Merten syndrome variantsAutosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function
P2860
Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.
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Further evidence for specific ...... with phenotypic heterogeneity.
@en
Further evidence for specific ...... with phenotypic heterogeneity.
@nl
type
label
Further evidence for specific ...... with phenotypic heterogeneity.
@en
Further evidence for specific ...... with phenotypic heterogeneity.
@nl
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Further evidence for specific ...... with phenotypic heterogeneity.
@en
Further evidence for specific ...... with phenotypic heterogeneity.
@nl
P2093
P2860
P50
P356
P1476
Further evidence for specific ...... with phenotypic heterogeneity
@en
P2093
Birgitta Bergendal
Britt-Marie Anderlid
Johanna Norderyd
P2860
P304
P356
10.1002/AJMG.A.38214
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P577
2017-03-20T00:00:00Z