Varaico: Literature-Extracted Genetic Variants

Gene:SALL4
Variant:p.T817A
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SALL4

NM_020436.5:p.T817A

Associated Papers

Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.

He Q et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

40464334 (PubMed )
Supplement: ADVS-12-e12073-s004.xlsx › Sheet1

Current understanding of the genomic abnormities in premature ovarian failure: chance for early diagnosis and management.

Yang X et al.

Frontiers in Medicine, 2023

The Genetics of Non-Syndromic Primary Ovarian Insufficiency: A Systematic Review.

Venturella R et al.

International Journal of Fertility & Sterility, 2019

Mutational analysis of SAL-Like 4 (SALL4) in Han Chinese women with premature ovarian failure.

Wang B et al.

Molecular Human Reproduction, 2009

Genetics of primary ovarian insufficiency: new developments and opportunities.

Qin Y et al.

Human Reproduction Update, 0

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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."