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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PSMD7

Variant:p.P2S

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PSMD7

NM_002811.5:p.P2S

hg38:chr16:74296918 C>T

Associated Papers

Biallelic <italic>TMEM72</italic> Variants in Patients with a Nephronophthisis-Like Phenotype.

Claus LR et al.

Nephron, 2025

41308066 (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."