Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.L82fs
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PMM2

NM_000303.3:p.L82fs

Associated Papers

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

Revisiting the immunopathology of congenital disorders of glycosylation: an updated review.

Pascoal C et al.

Frontiers in Immunology, 2024

Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders.

Zhang Z et al.

Bmc Medical Genetics, 2019

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