Varaico: Literature-Extracted Genetic Variants

Gene:PIP5K1A
Variant:p.K34E
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PIP5K1A

NM_001135638.2:p.K34E

Associated Papers

Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.

Viggiano M et al.

Npj Genomic Medicine, 2024

38519481 (PubMed )
Supplement: 41525_2024_411_MOESM1_ESM.pdf

Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.

Zhou C et al.

Chinese Medical Journal, 2023

37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET
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