Varaico: Literature-Extracted Genetic Variants

Gene:MLYCD
Variant:p.G96delFs
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MLYCD

NM_012213.3:p.G96delFs

Associated Papers

Case Report: A Novel Point Mutation of SOX3 in a Subject With Growth Hormone Deficiency, Hypogonadotrophic Hypogonadism, and Borderline Intellectual Disability.

Li J et al.

Frontiers in Endocrinology, 2022

[Gene variant analysis of a patient with multiple carboxylase deficiency].

Xing X et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020

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