Varaico: Literature-Extracted Genetic Variants

Gene:BTAF1
Variant:p.R1692Q
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BTAF1

NM_003972.3:p.R1692Q

Associated Papers

SCN8A mutation in a child presenting with seizures and developmental delays.

Malcolmson J et al.

Cold Spring Harbor Molecular Case Studies, 2016

27900360 (PubMed )
Supplement: supp_mcs.a001073_Supplementary_Table_1.xlsx › VAAST_results_39010_recessive.c

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1652.584
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