Condition: Juvenile Spinal Muscular Atrophy
rs104893932 in
SMN1;SMN2 gene and
Juvenile Spinal Muscular Atrophy
PMID 14715275 2004 Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress.
PMID 9158159 1997 Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).
PMID 10732817 1997 Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.
PMID 17761659 2007 Consensus statement for standard of care in spinal muscular atrophy.
PMID 9837824 1998 Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.
rs121909192 in
SMN2 gene and
Juvenile Spinal Muscular Atrophy
PMID 19716110 2009 A positive modifier of spinal muscular atrophy in the SMN2 gene.
PMID 14715275 2004 Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress.
PMID 9158159 1997 Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).
PMID 9837824 1998 Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.
PMID 10732817 1997 Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.
rs104893927 in
SMN2;SMN1 gene and
Juvenile Spinal Muscular Atrophy
PMID 10732817 1997 Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.
PMID 9158159 1997 Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).
PMID 14715275 2004 Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress.
PMID 9837824 1998 Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.
PMID 17761659 2007 Consensus statement for standard of care in spinal muscular atrophy.