Varaico: Literature-Extracted Genetic Variants

Gene:FNIP2
Variant:p.W1004L
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FNIP2

NM_020840.3:p.W1004L

Associated Papers

Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice.

Faridi R et al.

Genes, 2024

39062623 (PubMed )
Supplement: genes-15-00845-s001.zip › genes-3045527-Table_S4.xlsx › PKDF1419_SumandMuh_121423_Genet

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Riazuddin S et al.

Molecular Psychiatry, 2017

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