Varaico: Literature-Extracted Genetic Variants

Gene:TMEM138
Variant:p.R103fs
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TMEM138

NM_016464.5:p.R103fs

Associated Papers

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.

Braun DA et al.

Kidney International, 2016

26489029 (PubMed )
Supplement: NIHMS723233-supplement-01.pdf
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