Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1L1
Variant:p.G2416Splc
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PKHD1L1

NM_177531.6:p.G2416Splc

Associated Papers

Polymorphic pseudogenes in the human genome - a comprehensive assessment.

Lopes-Marques M et al.

Human Genetics, 2024

39488654 (PubMed )
Supplement: 439_2024_2715_MOESM7_ESM.xlsx › Additional_table_1

Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.

Li Y et al.

Bmc Medical Genomics, 2024

38659011 (PubMed )
Supplement: 12920_2024_1877_MOESM2_ESM.xlsx › H12056928648

Clustering of known low and moderate risk alleles rather than a novel recessive high-risk gene in non-BRCA1/2 sib trios affected with breast cancer.

Hilbers FS et al.

International Journal of Cancer, 2020

Revisiting the morbid genome of Mendelian disorders.

Abouelhoda M et al.

Genome Biology, 2016

27884173 (PubMed )
Supplement: 13059_2016_1102_MOESM1_ESM.pdf
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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."