Varaico: Literature-Extracted Genetic Variants

Gene:TMEM222
Variant:p.V148M
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TMEM222

NM_032125.3:p.V148M

Associated Papers

Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.

Polla DL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

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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."