Varaico: Literature-Extracted Genetic Variants

Gene:ASS1
Variant:p.R335C
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ASS1

NM_054012.4:p.R335C

Associated Papers

Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.

Kido J et al.

American Journal of Medical Genetics. Part A, 2021

Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.

Dulak AM et al.

Nature Genetics, 2013

23525077 (PubMed )
Supplement: NIHMS474888-supplement-5.xlsx › S._Table_15

Hyperammonemia in urea cycle disorders: A toxic metabolite for the brain.

Kido J et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 0

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