Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.G92R
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ABCD1

NM_000033.4:p.G92R

Associated Papers

A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.

Mederer T et al.

Plos Genetics, 2020

33151932 (PubMed )
Supplement: pgen.1009106.s007.pdf

Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Ittisoponpisan S et al.

Journal of the Endocrine Society, 2018

30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1

Recurrent bacterial infections and cellulitis in a 29-year-old woman with a history of hypogammaglobulinemia.

Adelman DC et al.

Annals of Allergy, 1987

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