Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.L28P
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CTLA4

NM_005214.5:p.L28P

Associated Papers

Autoimmune regulator (AIRE) gene on chromosome 21: implications for autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) any more common manifestations of endocrine autoimmunity.

Meyer G et al.

Journal of Endocrinological Investigation, 2002

APECED mutations in the autoimmune regulator (AIRE) gene.

Heino M et al.

Human Mutation, 2001

A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1.

Pearce SH et al.

American Journal of Human Genetics, 1998

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