Variant: rs121909486 

    present in Gene: LMX1B
    present in Chromosome: 9
    Position on Chromosome: 126693589
    Alleles of this Variant: C/A;T

rs121909486 in LMX1B gene and Nail-Patella Syndrome PMID 11668639 2001 Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients.

PMID 10571942 1999 Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.

PMID 9837817 1998 Mutation analysis of LMX1B gene in nail-patella syndrome patients.

PMID 9618165 1998 Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome.

PMID 9590287 1998 Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome.