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MYSM1 activates OMIM #618116. 1 / 1
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"Recently, biallelic variants in MYSM1 have been reported to lead to a rare bone marrow failure (BMF) syndrome (OMIM #618116) in humans, which has been observed in only nine patients ( Al-Herz et al., [MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"