Varaico: Literature-Extracted Genetic Variants

Gene:ALX4
Variant:p.P306L
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ALX4

NM_021926.4:p.P306L

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS24_het

Variants in ALX4 and their association with genitourinary defects.

Chen CH et al.

Andrology, 2020

Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.

Heuzé Y et al.

Current Genetic Medicine Reports, 2014

ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.

Yagnik G et al.

Human Mutation, 2012

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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."