VARIANT: 3188v1
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Entry
3188v1 Variant
Name
HNRNPH2 mutation
Type
Loss of function
Gene
HNRNPH2
heterogeneous nuclear ribonucleoprotein H2 [KO:
K12898
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
300610
Network
nt06547
Spliceosome
Disease
H00658
X-linked syndromic intellectual developmental disorder
Reference
PMID:
27545675
Authors
Bain JM, Cho MT, Telegrafi A, Wilson A, Brooks S, Botti C, Gowans G, Autullo LA, Krishnamurthy V, Willing MC, Toler TL, Ben-Zev B, Elpeleg O, Shen Y, Retterer K, Monaghan KG, Chung WK
Title
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.
Journal
Am J Hum Genet 99:728-734 (2016)
DOI:
10.1016/j.ajhg.2016.06.028
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