Hypothesis

2 Matching Annotations

Jan 2020
www.sciencedirect.com www.sciencedirect.com

https://www.sciencedirect.com/science/article/pii/S0960896613009826

1
1. may_flowers 22 Jan 2020
  
  in Public
  
  high arched palate
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000218
  
  ClinGen hpoLookup monarchLookup HP:0000218 hpoLookup:individual individual:1 gene:TPM3 case:notHPO
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case:notHPO

individual:1

HP:0000218

gene:TPM3

hpoLookup:individual

monarchLookup

ClinGen

hpoLookup

Annotators

may_flowers

URL

sciencedirect.com/science/article/pii/S0960896613009826
Nov 2019
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant

1
1. mjairath 19 Nov 2019
  
  in Public
  
  high arched palate
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000218
  
  ClinGen hpoLookup monarchLookup HP:0000218 hpoLookup:individual individual:1 gene:TNNT3
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hpoLookup:individual

individual:1

monarchLookup

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HP:0000218

gene:TNNT3

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Annotators

mjairath

URL

ncbi.nlm.nih.gov/pmc/articles/PMC5805634/