Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.L3713*
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PKHD1

NM_138694.4:p.L3713*

Associated Papers

Comparative Analysis of Genetic Alterations, HPV-Status, and PD-L1 Expression in Neuroendocrine Carcinomas of the Cervix.

Takayanagi D et al.

Cancers, 2021

33802174 (PubMed )
Supplement: cancers-13-01215-s001.zip › Supplymentary_files › Supplymental_table.xlsx › TableS2

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.

Melchionda S et al.

Journal of Human Genetics, 2016

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