Varaico: Literature-Extracted Genetic Variants

Gene:GATC
Variant:p.M78R
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GATC

NM_176818.3:p.M78R

Associated Papers

Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening.

Avnat E et al.

Genes, 2023

37107695 (PubMed )
Supplement: genes-14-00937-s001.zip › genes-2260434-supplementary.pdf

The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

Zlotogora J

Israel Journal of Health Policy Research, 2019

31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Arabs_not_Negev_Bedouins_

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.

Friederich MW et al.

Nature Communications, 2018

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