Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.V109I
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SLC29A3

NM_018344.6:p.V109I

Associated Papers

Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.

Jiali C et al.

Frontiers in Genetics, 2024

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Huang Y et al.

Frontiers in Genetics, 2023

36923788 (PubMed )
Supplement: Table3.xlsx › Sheet1

Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort.

Zidoune H et al.

Frontiers in Genetics, 2022

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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."