KEGG   VARIANT: 3187v1
Entry
3187v1                      Variant                                
Name
HNRNPH1 mutation
Type
Loss of function
Gene
HNRNPH1  heterogeneous nuclear ribonucleoprotein H1 [KO:K12898]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601035
Network
nt06547  Spliceosome
Disease
H03017  Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
Reference
  Authors
Reichert SC, Li R, A Turner S, van Jaarsveld RH, Massink MPG, van den Boogaard MH, Del Toro M, Rodriguez-Palmero A, Fourcade S, Schluter A, Planas-Serra L, Pujol A, Iascone M, Maitz S, Loong L, Stewart H, De Franco E, Ellard S, Frank J, Lewandowski R
  Title
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.
  Journal
Clin Genet 98:91-98 (2020)
DOI:10.1111/cge.13765
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