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UnknownGain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.
Not available
S-EPMC6562147 | biostudies-literature
UnknownSyndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.
Not available
S-EPMC8440610 | biostudies-literature
UnknownMutation of KCNJ8 in a patient with Cantu syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.
Not available
S-EPMC3902017 | biostudies-literature
UnknownClinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel.
Not available
S-EPMC9456291 | biostudies-literature
UnknownExpansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
Not available
S-EPMC2598066 | biostudies-literature
UnknownA de novo frameshift variant in the candidate RBM15 in a proband with congenital mirror movements.
Not available
S-EPMC12554026 | biostudies-literature
Unknownde novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation.
Not available
S-EPMC6715695 | biostudies-literature
UnknownThe 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module.
Not available
S-EPMC3490508 | biostudies-literature
UnknownHomozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome.
Not available
S-EPMC11762410 | biostudies-literature
UnknownActivating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder.
Not available
S-EPMC6174322 | biostudies-literature
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