Varaico: Literature-Extracted Genetic Variants

Gene:TSPYL1
Variant:p.Q23*
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TSPYL1

NM_003309.4:p.Q23*

Associated Papers

Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study.

Tang Y et al.

Endocrine Connections, 2023

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_2

New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development.

Xu Y et al.

European Journal of Endocrinology, 2019

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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."