Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.C178Y
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GPR50

NM_004224.3:p.C178Y

Associated Papers

SepM mutation in Streptococcus mutans clinical isolates and related function analysis.

Liu S et al.

Bmc Oral Health, 2024

Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening.

Lin Y et al.

Orphanet Journal of Rare Diseases, 2021

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.

Calpena E et al.

American Journal of Human Genetics, 2019

30905399 (PubMed )
Supplement: mmc4.pdf
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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."