Varaico: Literature-Extracted Genetic Variants

Gene:DRC1
Variant:p.S533_A534Splc
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DRC1

NM_145038.5:p.S533_A534Splc

Associated Papers

Multifactorial analysis of male infertility: sperm DNA damage, semen parameters, and genetic testing in Iranian infertile men.

Motamed M et al.

Archivio Italiano Di Urologia, Andrologia : Organo Ufficiale [di] Societa Italiana Di Ecografia Urologica E Nefrologica, 2025

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Jia X et al.

Molecular Psychiatry, 2021

33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2

Airway ciliary dysfunction and respiratory symptoms in patients with transposition of the great arteries.

Zahid M et al.

Plos One, 2018

29444099 (PubMed )
Supplement: pone.0191605.s014.xlsx › PCDMutationsTGAPatients

Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.

Kobayashi Y et al.

Genome Medicine, 2017

28166811 (PubMed )
Supplement: 13073_2017_403_MOESM2_ESM.xlsx › Sheet1
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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."