Variant: rs767889331 

    present in Gene: LAMA1
    present in Chromosome: 18
    Position on Chromosome: 7012105
    Alleles of this Variant: G/A;C;T

rs767889331 in LAMA1 gene and Movement Disorders PMID 25105227 2014 Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.

PMID 20048158 2010 Mutations in Lama1 disrupt retinal vascular development and inner limiting membrane formation.

PMID 21937992 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

PMID 27095636 2016 Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.

PMID 23263632 2013 The laminin family.

PMID 19553699 2009 Crystal structure of the LG1-3 region of the laminin alpha2 chain.

PMID 24013853 2014 Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?

PMID 15102706 2004 Compositional and structural requirements for laminin and basement membranes during mouse embryo implantation and gastrulation.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 2591971 1989 Human laminin A chain (LAMA) gene: chromosomal mapping to locus 18p11.3.

PMID 9151674 1997 The laminin alpha chains: expression, developmental transitions, and chromosomal locations of alpha1-5, identification of heterotrimeric laminins 8-11, and cloning of a novel alpha3 isoform.

PMID 23161681 2013 Update on activities at the Universal Protein Resource (UniProt) in 2013.

PMID 6795355 1981 Shapes, domain organizations and flexibility of laminin and fibronectin, two multifunctional proteins of the extracellular matrix.

PMID 10607917 1999 Restricted distribution of laminin alpha1 chain in normal adult mouse tissues.

rs767889331 in LAMA1 gene and Muscle hypotonia PMID 15102706 2004 Compositional and structural requirements for laminin and basement membranes during mouse embryo implantation and gastrulation.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 9151674 1997 The laminin alpha chains: expression, developmental transitions, and chromosomal locations of alpha1-5, identification of heterotrimeric laminins 8-11, and cloning of a novel alpha3 isoform.

PMID 25105227 2014 Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.

PMID 6795355 1981 Shapes, domain organizations and flexibility of laminin and fibronectin, two multifunctional proteins of the extracellular matrix.

PMID 27095636 2016 Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.

PMID 20048158 2010 Mutations in Lama1 disrupt retinal vascular development and inner limiting membrane formation.

PMID 23263632 2013 The laminin family.

PMID 10607917 1999 Restricted distribution of laminin alpha1 chain in normal adult mouse tissues.

PMID 2591971 1989 Human laminin A chain (LAMA) gene: chromosomal mapping to locus 18p11.3.

PMID 21937992 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

PMID 23161681 2013 Update on activities at the Universal Protein Resource (UniProt) in 2013.

PMID 19553699 2009 Crystal structure of the LG1-3 region of the laminin alpha2 chain.

PMID 24013853 2014 Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?