- Dec 2019
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www.sciencedirect.com www.sciencedirect.com
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DDX6
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DDX6
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- Nov 2019
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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hypertrophy of slow fibres
Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0100293
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fibre degeneration
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0100295
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interstitial fibrosis
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002206
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hypertrophy of Type 1 (slow) fibres
Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0100293
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nemaline rods
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003798
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selective and marked atrophy of Type 2 (fast) fibres
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003554
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nasogastric tube feedin
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0040288
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bulbar weakness
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001283
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non-invasive ventilation
Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0004887
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respiratory muscle weakness
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002747
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thoracic scoliosis
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002943
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thoracic scoliosis
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002943
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bilateral hip dislocation
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008780
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finger contractures
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005879
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knee contractures
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0006380
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high arched palate
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000218
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hypotonia
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
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limb muscles
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0009028
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weakness of facial
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0030319
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rocker-bottom
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001838
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bilateral talipes
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001776
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overlapping digits
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010557
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overlapping digits
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001845
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polyhydramnios
Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001561
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TNNT3
Tags
- HP:0100295
- HP%3A0100293
- HP:0001561
- gene:TNNT3
- monarchLookup
- HP:0006380
- HP:0002747
- HP:0040288
- HP:0001845
- individual:1
- HP:0001283
- HP:0003554
- HP:0002206
- HP%3A0004887
- HP:0001776
- HP:0010557
- pmid:29266598
- HP:0001838
- ClinGen
- HP:0002943
- HP:0001252
- hpoLookup:individual
- HP:0000218
- HP:0005879
- HP:0009028
- hpoLookup
- HP:0003798
- HP:0008780
- HP:0030319
Annotators
URL
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