Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.T1615M
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PKHD1

NM_138694.4:p.T1615M

Associated Papers

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

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL1

Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.

Jiang J et al.

Journal of Personalized Medicine, 2018

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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."