Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.R33C
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PAX8

NM_003466.4:p.R33C

Associated Papers

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.

Wallis M et al.

Orphanet Journal of Rare Diseases, 2024

39095811 (PubMed )
Supplement: 13023_2024_3297_MOESM2_ESM.xlsx › Sheet1

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 580.240
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