Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.W1229S
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PKHD1

NM_138694.4:p.W1229S

Associated Papers

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

Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy.

Suzuki T et al.

Neuroscience Letters, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."