Varaico: Literature-Extracted Genetic Variants

Gene:PI4KA
Variant:p.R1941*
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PI4KA

NM_058004.4:p.R1941*

Associated Papers

Incidental and secondary findings in trio exome sequencing.

Cohen C et al.

Genes & Diseases, 2024

38523675 (PubMed )
Supplement: mmc3.pdf

Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.

Kuil LE et al.

Plos Genetics, 2021

Biphenotypic Branchioma: A Better Name Than Ectopic Hamartomatous Thymoma for a Neoplasm with HRAS Mutation.

Thompson LDR et al.

Head and Neck Pathology, 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."