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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FRMPD4

Variant:p.K399_L400Splc

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FRMPD4

NM_001368397.1:p.K399_L400Splc

hg38:chrX:12706820 C>A

Associated Papers

A Novel Intronic Variant in FRMPD4 Disrupts Splicing: Case Report of an X-Linked Neurodevelopmental Disorder.

Satake T et al.

American Journal of Medical Genetics. Part A, 2025

41235592 (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."