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Paper Details

Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families.
Anesthesiology
46
2013
1S subunit (CACNA1S) gene, Asp1056His, CACNA1S, CACNA1S variant, MH, Mendelian disorders, RYR1, RYR1 nonsynonymous, Thr1009Lys, Val2627Met, Val4234Leu, alleles, calcium, calcium channel genes, complementary DNA, exome, genome, malignant hyperthermia, novel gene, protein-coding region, ryanodine, ryanodine receptor, skeletal muscle ryanodine receptor 1
Author NameAffiliation
Jerry H KimUniversity of Washington, Leeds Institute of Molecular Medicine
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Datasets

Release 1.2