Varaico: Literature-Extracted Genetic Variants

Gene:ASS1
Variant:p.H116_A118del3
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ASS1

NM_054012.4:p.H116_A118del3

Associated Papers

Ethnic preference distribution of inborn errors of metabolism: A 4-year study in a multi-ethnic region of China.

Mao X et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020

A role for TENM1 mutations in congenital general anosmia.

Alkelai A et al.

Clinical Genetics, 2016

27040985 (PubMed )
Supplement: supplement_1.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."