Varaico: Literature-Extracted Genetic Variants

Gene:PQBP1
Variant:p.V84G
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PQBP1

NM_001032382.2:p.V84G

Associated Papers

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.

Bogaert E et al.

American Journal of Human Genetics, 2023

37071997 (PubMed )
Supplement: mmc3.pdf

The acquisition of molecular drivers in pediatric therapy-related myeloid neoplasms.

Schwartz JR et al.

Nature Communications, 2021

33579957 (PubMed )
Supplement: 41467_2021_21255_MOESM24_ESM.xlsx › Sup._Data_21_Serial_Sequencing
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