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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
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GENETICS IN MEDICINE (2015)
GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
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Regulation of the transient receptor potential channel TRPM3 by phosphoinositides
Balazs I. Toth et al.
JOURNAL OF GENERAL PHYSIOLOGY (2015)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
The Database of Genomic Variants: a curated collection of structural variation in the human genome
Jeffrey R. MacDonald et al.
NUCLEIC ACIDS RESEARCH (2014)
Mutation of the Melastatin-Related Cation Channel, TRPM3, Underlies Inherited Cataract and Glaucoma
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PLOS ONE (2014)
A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3
Alistair T. Pagnamenta et al.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2011)
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Joris Vriens et al.
NEURON (2011)
Phosphatidylinositol 4,5-bisphosphate (PIP2) controls magnesium gatekeeper TRPM6 activity
Jia Xie et al.
SCIENTIFIC REPORTS (2011)
TRPM3 is expressed in sphingosine-responsive myelinating oligodendrocytes
Anja Hoffmann et al.
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Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
Hideo Kuniba et al.
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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Prateek Kumar et al.
NATURE PROTOCOLS (2009)
Molecular and functional characterization of the melastatin-related cation channel TRPM3
C Grimm et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Perspective - Coupled movements in voltage-gated ion channels
R Horn
JOURNAL OF GENERAL PHYSIOLOGY (2002)
Human non-synonymous SNPs: server and survey
V Ramensky et al.
NUCLEIC ACIDS RESEARCH (2002)