LQTS in Northern BC: homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function.
about
Novel Variant in the ANK2 Membrane-Binding Domain Is Associated With Ankyrin-B Syndrome and Structural Heart Disease in a First Nations Population With a High Rate of Long QT Syndrome.KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue.Genetic variants for long QT syndrome among infants and children from a statewide newborn hearing screening program cohortFatty acid analogue N-arachidonoyl taurine restores function of IKs channels with diverse long QT mutations.Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability.Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.
P2860
Q33168257-252F107B-DC92-492A-A780-8AA1D4BAD01FQ33886242-A4DC11C4-34CA-42D6-8865-94EF84B50481Q34752070-61429AB9-B5A7-4292-B61A-F102D57880D4Q37620056-1F75035A-A561-44D3-B8E8-77CE83787E57Q38805694-4FCF3B7A-48B6-49A0-9512-AA69E736BD65Q39199102-083B2BF8-0721-477D-A4F3-E2A6DFE52273Q40599284-22715522-E3E8-4056-A900-607023C81C2CQ41696484-44426391-713D-4C2B-8793-C5C0B261DC8D
P2860
LQTS in Northern BC: homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function.
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name
LQTS in Northern BC: homozygos ...... l impact on auditory function.
@en
LQTS in Northern BC: homozygos ...... l impact on auditory function.
@nl
type
label
LQTS in Northern BC: homozygos ...... l impact on auditory function.
@en
LQTS in Northern BC: homozygos ...... l impact on auditory function.
@nl
prefLabel
LQTS in Northern BC: homozygos ...... l impact on auditory function.
@en
LQTS in Northern BC: homozygos ...... l impact on auditory function.
@nl
P2093
P2860
P356
P1433
P1476
LQTS in Northern BC: homozygos ...... l impact on auditory function.
@en
P2093
B Whittome
H A Jackson
L T Arbour
S McIntosh
P2860
P356
10.1111/CGE.12235
P577
2013-07-30T00:00:00Z