Publications
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Author Title [ Year
] Filters: First Letter Of Last Name is H and Author is Helman, Guy [Clear All Filters]
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10. Hum Mutat 42, 19-24 (2021).
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. Eur J Hum Genet 29, 271-279 (2021).
