Varaico: Literature-Extracted Genetic Variants

Gene:PTS
Variant:p.M1V
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PTS

NM_000317.3:p.M1V

Associated Papers

Clinical exome sequencing identifies novel compound heterozygous mutations of the WEE2 gene in primary infertile women with fertilization failure.

Wang A et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2021

6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects.

Almannai M et al.

Pediatric Neurology, 2019

Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.

Chiu YH et al.

Journal of Human Genetics, 2012

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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."