Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.S1435T
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PKHD1

NM_138694.4:p.S1435T

Associated Papers

Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader PKHD1-Associated Disease Spectrum.

Lapunzina-Soler P et al.

Genes, 2026

Distribution and classifications of PKHD1 gene variants in a Turkish population using the next generation sequencing method.

Gezgin Y et al.

Turkish Journal of Medical Sciences, 2024

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