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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM165

Variant:p.A310P

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TMEM165

NM_018475.5:p.A310P

hg38:chr4:55425405 G>C

Associated Papers

Efficacy of oral manganese and D-galactose therapy in a patient bearing a novel TMEM165 variant.

Durin Z et al.

Translational Research : the Journal of Laboratory and Clinical Medicine, 2024

38013006 (PubMed )

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