Varaico: Literature-Extracted Genetic Variants

Gene:PMCH
Variant:p.F141delFs
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PMCH

NM_002674.4:p.F141delFs

Associated Papers

In vitro modeling and rescue of ciliopathy associated with IQCB1/NPHP5 mutations using patient-derived cells.

Kruczek K et al.

Stem Cell Reports, 2022

36084637 (PubMed )
Supplement: mmc1.pdf
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