Varaico: Literature-Extracted Genetic Variants

Gene:LRRC8D
Variant:p.M634I
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LRRC8D

NM_001134479.2:p.M634I

Associated Papers

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.

Urreizti R et al.

Orphanet Journal of Rare Diseases, 2020

32041641 (PubMed )
Supplement: 13023_2020_1317_MOESM1_ESM.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."