The Cerebellum · 2012 · 33 citations · 9 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsNeurogeneticsGenetic DisordersHereditary NeuropathiesMendelian Neurological DisordersNeurodegenerative Disease GeneticsNeurogenetic DisordersSpinocerebellar AtaxiasAtaxia SyndromesHereditary AtaxiasHereditary Motor Neuron DiseaseMissense MutationsMutationPathogenic Gene IdentificationSpinocerebellar Ataxia Genetics
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A map of human genome variation from population-scale sequencing
dbSNP: the NCBI database of genetic variation
Stephen T. Sherry · Nucleic Acids Research · 2001 · 7.8K citations · Full text
Predicting Deleterious Amino Acid Substitutions
Pauline C. Ng, Steven Henikoff · Genome Research · 2001 · 2.7K citations · Full text
Spectrin mutations cause spinocerebellar ataxia type 5
Yoshio Ikeda, Katherine A. Dick, Marcy R. Weatherspoon et al. · Nature Genetics · 2006 · 389 citations
Life Sciences, Genetics, Neurology +14
Crystal Structure of the α-Actinin Rod Reveals an Extensive Torsional Twist
Jari Ylänne, Klaus Scheffzek, Paul Young et al. · Structure · 2001 · 174 citations · Full text