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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIP5K1A

Variant:p.R360*

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PIP5K1A

NM_001135636.2:p.R360*

hg38:chr1:151236732 C>T

Associated Papers

Arab founder variants: Contributions to clinical genomics and precision medicine.

AlAbdi L et al.

Med (new York, N.y.), 2025

39504961 (PubMed )

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.

Anazi S et al.

Molecular Psychiatry, 2017

27431290 (PubMed )

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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."