Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1L1
Variant:p.N4041Y
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PKHD1L1

NM_177531.6:p.N4041Y

Associated Papers

Family-based genetic analysis in schizophrenia by whole-exome sequence to identify rare pathogenic variants.

Shang B et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2024

Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder.

Privitera F et al.

Revista Brasileira De Psiquiatria (sao Paulo, Brazil : 1999), 2023

35881528 (PubMed )
Supplement: 1516-4446-rbp-1516444620222650-suppl1.pdf

Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families.

Forstner AJ et al.

Translational Psychiatry, 2020

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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."