Varaico: Literature-Extracted Genetic Variants

Gene:ANOS1
Variant:p.Q242_T243Splc
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ANOS1

NM_000216.4:p.Q242_T243Splc

Associated Papers

A Novel Noncanonical Splicing Mutation of ANOS1 Gene in Siblings with Kallmann Syndrome Identified by Whole-Exome Sequencing.

Xia Y et al.

Reproductive Sciences (thousand Oaks, Calif.), 2022

A novel splice site variant in ANOS1 gene leads to Kallmann syndrome in three siblings.

Jiang X et al.

Gene, 2020

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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."