Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.P142S
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PRH1

NM_001393989.1:p.P142S

Associated Papers

Perinatal manifestations of congenital disorders of glycosylation-A clue to early diagnosis.

Greczan M et al.

Frontiers in Genetics, 2022

36583024 (PubMed )
Supplement: Table1.pdf

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

Morava E et al.

Brain : a Journal of Neurology, 2010

Mutations of the gene for the aryl hydrocarbon receptor-interacting protein in pituitary adenomas.

Cazabat L et al.

Hormone Research, 2009

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