Varaico: Literature-Extracted Genetic Variants

Gene:PTRHD1
Variant:p.E84D
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PTRHD1

NM_001013663.2:p.E84D

Associated Papers

Recurrent WNT pathway alterations are frequent in relapsed small cell lung cancer.

Wagner AH et al.

Nature Communications, 2018

30224629 (PubMed )
Supplement: 41467_2018_6162_MOESM13_ESM.xlsx › 10_-_All_SNVs_and_Indels

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1405.506
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