Varaico: Literature-Extracted Genetic Variants

Gene:SIPA1L1
Variant:p.Q699Q
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SIPA1L1

NM_001386936.1:p.Q699Q

Associated Papers

Reference-informed prediction of alternative splicing and splicing-altering mutations from sequences.

Xu C et al.

Genome Research, 2024

39060028 (PubMed )
Supplement: Supplemental_Table_S8.xlsx › Table_S8

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.

Reijnders MRF et al.

Nature Communications, 2017

29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
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