Varaico: Literature-Extracted Genetic Variants

Gene:FRMPD4
Variant:p.L546F
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FRMPD4

NM_001368397.1:p.L546F

Associated Papers

Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.

Lan X et al.

Jama Network Open, 2025

40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable4

Unveiling Hidden Genetic Architectures: Molecular Diagnostic Yield of Whole Exome Sequencing in 50 Children With Autism Spectrum Disorder Negative for Copy Number Variations.

Wang Z et al.

Genetics Research, 2025

A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels.

Yuan Y et al.

Frontiers in Genetics, 2022

36159980 (PubMed )
Supplement: Table1.XLSX › SNP
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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."