Varaico: Literature-Extracted Genetic Variants

Gene:RAB3GAP1
Variant:p.R392Q
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RAB3GAP1

NM_012233.3:p.R392Q

Associated Papers

Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.

Dwyer AA et al.

Frontiers in Endocrinology, 2022

36407308 (PubMed )
Supplement: Table_1.docx

A robust pipeline with high replication rate for detection of somatic variants in the adaptive immune system as a source of common genetic variation in autoimmune disease.

Van Horebeek L et al.

Human Molecular Genetics, 2019

Gene screening facilitates diagnosis of complicated symptoms: A case report.

Duan H et al.

Molecular Medicine Reports, 2017

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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."