Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3E
Variant:p.E194Q
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SEMA3E

NM_001178129.2:p.E194Q

Associated Papers

Digenic CHD7 and SMCHD1 inheritance Unveils phenotypic variability in a family mainly presenting with hypogonadotropic hypogonadism.

Wang T et al.

Heliyon, 2024

Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.

Wu TH et al.

Scientific Reports, 2023

Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.

Patil VA et al.

Clinical Endocrinology, 2022

36138264 (PubMed )
Supplement: supplement_1.xlsx › Sheet1

Correlation Analysis of Genotypes and Phenotypes in Chinese Male Pediatric Patients With Congenital Hypogonadotropic Hypogonadism.

Wang Y et al.

Frontiers in Endocrinology, 2022

Congenital absence of the vas deferens with hypospadias or without hypospadias: Phenotypic findings and genetic considerations.

Fang J 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."