Varaico: Literature-Extracted Genetic Variants

Gene:PMEL
Variant:p.A177insFs
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PMEL

NM_001384361.1:p.A177insFs

Associated Papers

NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation.

Dabaj I et al.

Life (basel, Switzerland), 2021

33673403 (PubMed )
Supplement: life-11-00187-s001.zip › Dabaj_et_al_CDDG_suplementary_data_20210214.xlsx › meta_data
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