Varaico: Literature-Extracted Genetic Variants

Gene:RGPD3
Variant:p.R23P
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RGPD3

NM_001144013.2:p.R23P

Associated Papers

Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.

Zhou C et al.

Chinese Medical Journal, 2023

37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET

A case report of multiple primary prostate tumors with differential drug sensitivity.

Wilkinson S et al.

Nature Communications, 2020

32054861 (PubMed )
Supplement: 41467_2020_14657_MOESM4_ESM.xlsx › Source_of_Supp_Table_3

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Khan MJ et al.

Scientific Reports, 2018

30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 2._minor_allele_frequency_1
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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."