Varaico: Literature-Extracted Genetic Variants

Gene:ACSF3
Variant:p.K210Q
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ACSF3

NM_001243279.3:p.K210Q

Associated Papers

Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022.

Wang D et al.

Frontiers in Genetics, 2024

Identification of Novel Mutations in the MMAA and MUT Genes among Methylmalonic Aciduria Families.

Jafari M et al.

Iranian Biomedical Journal, 2023

A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels.

Yuan Y et al.

Frontiers in Genetics, 2022

36159980 (PubMed )
Supplement: Table1.XLSX › SNP
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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."