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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPRT1

Variant:p.N203_H204Splc

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HPRT1

NM_000194.3:p.N203_H204Splc

hg38:chrX:134500025 T>A

Associated Papers

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Mirzaa GM et al.

Nature Communications, 2025

41213919 (PubMed )

Supplement: 41467_2025_64838_MOESM4_ESM.xlsx › Mirzaa_et_al_Suppl_Data_File_1

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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."