Varaico: Literature-Extracted Genetic Variants

Gene:GOT1
Variant:p.G111R
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GOT1

NM_002079.3:p.G111R

Associated Papers

Acute Intermittent Porphyria in Prepubertal Child-diagnostic and Therapeutic Challenges in India: A Case Report and Literature Review.

Sharma AG et al.

Indian Journal of Critical Care Medicine : Peer-reviewed, Official Publication of Indian Society of Critical Care Medicine, 2022

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf
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