Varaico: Literature-Extracted Genetic Variants

Gene:KGD4
Variant:p.E95*
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KGD4

NM_033281.6:p.E95*

Associated Papers

A Novel PINK1 p.F385S Loss-of-Function Mutation in an Indian Family with Parkinson's Disease.

Sharma K et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.

Galosi S et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

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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."